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<meta name="keywords" content="C4310675, apolipoprotein a-i binding protein deficiency, disease or syndrome, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, nad(p)hx epimerase deficiency, naxe, pebel, pebel1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=934642
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ConceptID=C4310675
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1<span class="h1sub">(PEBEL1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934642</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NAD(P)HX epimerase deficiency; PEBEL1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Apolipoprotein A-I binding protein deficiency (1251447008); NAD(P)HX epimerase deficiency (1251447008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NAXE - ID: 128240 - NCBI Gene" href="/gene/128240" class="medgenPMinfo">NAXE</a> (1q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020781" target="_blank">MONDO:0020781</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617186" target="_blank">617186</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=555407">ORPHA555407</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2337"><div><strong>Cerebral edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0006114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal accumulation of fluid in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2337">Feature record</a> | <a href="/medgen?term=%22Cerebral%20edema%22%5BClinical%20Features%5D%20OR%202337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11550"><div><strong>Myelopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11550">Feature record</a> | <a href="/medgen?term=%22Myelopathy%22%5BClinical%20Features%5D%20OR%2011550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11859"><div><strong>Torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11859</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11859">Feature record</a> | <a href="/medgen?term=%22Torticollis%22%5BClinical%20Features%5D%20OR%2011859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39314"><div><strong>Encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39314</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39314">Feature record</a> | <a href="/medgen?term=%22Encephalopathy%22%5BClinical%20Features%5D%20OR%2039314%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57691"><div><strong>Cervical myelopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57691</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0149645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57691">Feature record</a> | <a href="/medgen?term=%22Cervical%20myelopathy%22%5BClinical%20Features%5D%20OR%2057691%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66840"><div><strong>Global brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66840</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66840">Feature record</a> | <a href="/medgen?term=%22Global%20brain%20atrophy%22%5BClinical%20Features%5D%20OR%2066840%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78722"><div><strong>Leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78722">Feature record</a> | <a href="/medgen?term=%22Leukoencephalopathy%22%5BClinical%20Features%5D%20OR%2078722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78731"><div><strong>Tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78731</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78731">Feature record</a> | <a href="/medgen?term=%22Tetraparesis%22%5BClinical%20Features%5D%20OR%2078731%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257904"><div><strong>Increased CSF lactate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257904</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1167918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of lactate in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257904">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20lactate%22%5BClinical%20Features%5D%20OR%20257904%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854457"><div><strong>Restlessness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854457</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854457">Feature record</a> | <a href="/medgen?term=%22Restlessness%22%5BClinical%20Features%5D%20OR%20854457%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868341"><div><strong>Cerebral white matter atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868341</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of atrophy (wasting) of the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868341">Feature record</a> | <a href="/medgen?term=%22Cerebral%20white%20matter%20atrophy%22%5BClinical%20Features%5D%20OR%20868341%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868369"><div><strong>Elevated brain choline level by MRS</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868369</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868369">Feature record</a> | <a href="/medgen?term=%22Elevated%20brain%20choline%20level%20by%20MRS%22%5BClinical%20Features%5D%20OR%20868369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375706"><div><strong>Cerebellar edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375706</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4316985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375706">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20edema%22%5BClinical%20Features%5D%20OR%201375706%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1645218"><div><strong>Abducens nerve palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645218</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645218">Feature record</a> | <a href="/medgen?term=%22Abducens%20nerve%20palsy%22%5BClinical%20Features%5D%20OR%201645218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643639"><div><strong>Brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643639</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete wasting (loss) of brain tissue that was once present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643639">Feature record</a> | <a href="/medgen?term=%22Brain%20atrophy%22%5BClinical%20Features%5D%20OR%201643639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66670"><div><strong>Bradypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0231837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradypnea is referring to breathing that is abnormally slow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66670">Feature record</a> | <a href="/medgen?term=%22Bradypnea%22%5BClinical%20Features%5D%20OR%2066670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257837"><div><strong>Respiratory failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257837</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1145670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257837">Feature record</a> | <a href="/medgen?term=%22Respiratory%20failure%22%5BClinical%20Features%5D%20OR%20257837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854383"><div><strong>Skin erosion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854383">Feature record</a> | <a href="/medgen?term=%22Skin%20erosion%22%5BClinical%20Features%5D%20OR%20854383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334385"><div><strong>Vertical supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334385</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334385">Feature record</a> | <a href="/medgen?term=%22Vertical%20supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20334385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868721"><div><strong>Abnormal activity of mitochondrial respiratory chain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868721</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4023126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased or decreased activity of the mitochondrial respiratory chain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868721">Feature record</a> | <a href="/medgen?term=%22Abnormal%20activity%20of%20mitochondrial%20respiratory%20chain%22%5BClinical%20Features%5D%20OR%20868721%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal activity of mitochondrial respiratory chain</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertical supranuclear gaze palsy</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin erosion</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1645218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abducens nerve palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral white matter atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical myelopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated brain choline level by MRS</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global brain atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF lactate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restlessness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradypnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory failure</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN263076[DISCUI]&test_type=Clinical" ref="ncbi_uid=946104">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=946104" ref="ncbi_uid=946104">V</a></span></span><span class="TLline"><a href="/medgen/946104" ref="tree=GTR&ncbi_uid=946104&link_uid=946104" title="View MedGen record for 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy'">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310675[DISCUI]&test_type=Clinical" ref="ncbi_uid=934642">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934642" target="_blank" href="/omim/608862">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934642" ref="ncbi_uid=934642">V</a></span></span><span class="TLline">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5193026[DISCUI]&test_type=Clinical" ref="ncbi_uid=1681210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1681210" target="_blank" href="/omim/615910">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681210" ref="ncbi_uid=1681210">V</a></span></span><span class="TLline"><a href="/medgen/1681210" ref="tree=GTR&ncbi_uid=1681210&link_uid=1681210" title="View MedGen record for 'NAD(P)HX dehydratase deficiency'">NAD(P)HX dehydratase deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/946104" ref="tree=MeSH" title="MedGen record for Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy</a></span><ul><li><span class="matched_ds">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33223083">Treatment of Viral Encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aksamit AJ Jr</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Feb;39(1):197-207.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ncl.2020.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33223083" target="_blank">33223083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31909500">X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turk BR,
|
||
Theda C,
|
||
Fatemi A,
|
||
Moser AB</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2020 Feb;80(1):52-72.
|
||
Epub 2020 Jan 26
|
||
doi: 10.1002/jdn.10003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31909500" target="_blank">31909500</a><a href="/pmc/articles/PMC7041623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27753502">Carbon Monoxide Poisoning: Pathogenesis, Management, and Future Directions of Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose JJ,
|
||
Wang L,
|
||
Xu Q,
|
||
McTiernan CF,
|
||
Shiva S,
|
||
Tejero J,
|
||
Gladwin MT</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2017 Mar 1;195(5):596-606.
|
||
doi: 10.1164/rccm.201606-1275CI.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27753502" target="_blank">27753502</a><a href="/pmc/articles/PMC5363978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (496)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31174885">Leukodystrophies and genetic leukoencephalopathies in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarret C</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2020 Jan-Feb;176(1-2):10-19.
|
||
Epub 2019 Jun 4
|
||
doi: 10.1016/j.neurol.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31174885" target="_blank">31174885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30467211">Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DS,
|
||
Wade C,
|
||
Paiva ARB,
|
||
John N,
|
||
Kinsella JA,
|
||
Merwick Á,
|
||
Ahmed RM,
|
||
Warren JD,
|
||
Mummery CJ,
|
||
Schott JM,
|
||
Fox NC,
|
||
Houlden H,
|
||
Adams ME,
|
||
Davagnanam I,
|
||
Murphy E,
|
||
Chataway J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2019 May;90(5):543-554.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1136/jnnp-2018-319481.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30467211" target="_blank">30467211</a><a href="/pmc/articles/PMC6581077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30150321">Spinal cord involvement in adult-onset metabolic and genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marelli C,
|
||
Salsano E,
|
||
Politi LS,
|
||
Labauge P</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2019 Feb;90(2):211-218.
|
||
Epub 2018 Aug 27
|
||
doi: 10.1136/jnnp-2018-318666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30150321" target="_blank">30150321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27890176">The Risk of Progressive Multifocal Leukoencephalopathy in the Biologic Era: Prevention and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molloy ES,
|
||
Calabrese CM,
|
||
Calabrese LH</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2017 Feb;43(1):95-109.
|
||
doi: 10.1016/j.rdc.2016.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27890176" target="_blank">27890176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4010)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31174885">Leukodystrophies and genetic leukoencephalopathies in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarret C</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2020 Jan-Feb;176(1-2):10-19.
|
||
Epub 2019 Jun 4
|
||
doi: 10.1016/j.neurol.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31174885" target="_blank">31174885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30467211">Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DS,
|
||
Wade C,
|
||
Paiva ARB,
|
||
John N,
|
||
Kinsella JA,
|
||
Merwick Á,
|
||
Ahmed RM,
|
||
Warren JD,
|
||
Mummery CJ,
|
||
Schott JM,
|
||
Fox NC,
|
||
Houlden H,
|
||
Adams ME,
|
||
Davagnanam I,
|
||
Murphy E,
|
||
Chataway J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2019 May;90(5):543-554.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1136/jnnp-2018-319481.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30467211" target="_blank">30467211</a><a href="/pmc/articles/PMC6581077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30150321">Spinal cord involvement in adult-onset metabolic and genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marelli C,
|
||
Salsano E,
|
||
Politi LS,
|
||
Labauge P</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2019 Feb;90(2):211-218.
|
||
Epub 2018 Aug 27
|
||
doi: 10.1136/jnnp-2018-318666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30150321" target="_blank">30150321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22422211">Leukoencephalopathies in adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tillema JM,
|
||
Renaud DL</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Feb;32(1):85-94.
|
||
Epub 2012 Mar 15
|
||
doi: 10.1055/s-0032-1306391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22422211" target="_blank">22422211</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4439)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38321317">Drug-Induced Progressive Multifocal Leukoencephalopathy (PML): A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rindi LV,
|
||
Zaçe D,
|
||
Braccialarghe N,
|
||
Massa B,
|
||
Barchi V,
|
||
Iannazzo R,
|
||
Fato I,
|
||
De Maria F,
|
||
Kontogiannis D,
|
||
Malagnino V,
|
||
Sarmati L,
|
||
Iannetta M</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2024 Apr;47(4):333-354.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s40264-023-01383-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321317" target="_blank">38321317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33219338">Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese I,
|
||
Reich DS,
|
||
Nath A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2021 Jan;17(1):37-51.
|
||
Epub 2020 Nov 20
|
||
doi: 10.1038/s41582-020-00427-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33219338" target="_blank">33219338</a><a href="/pmc/articles/PMC7678594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30969503">Pembrolizumab Treatment for Progressive Multifocal Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese I,
|
||
Muranski P,
|
||
Enose-Akahata Y,
|
||
Ha SK,
|
||
Smith B,
|
||
Monaco M,
|
||
Ryschkewitsch C,
|
||
Major EO,
|
||
Ohayon J,
|
||
Schindler MK,
|
||
Beck E,
|
||
Reoma LB,
|
||
Jacobson S,
|
||
Reich DS,
|
||
Nath A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Apr 25;380(17):1597-1605.
|
||
Epub 2019 Apr 10
|
||
doi: 10.1056/NEJMoa1815039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30969503" target="_blank">30969503</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30422209">Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debette S,
|
||
Schilling S,
|
||
Duperron MG,
|
||
Larsson SC,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2019 Jan 1;76(1):81-94.
|
||
doi: 10.1001/jamaneurol.2018.3122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30422209" target="_blank">30422209</a><a href="/pmc/articles/PMC6439887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17038473">Natalizumab and progressive multifocal leucoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berger JR</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2006 Nov;65 Suppl 3(Suppl 3):iii48-53.
|
||
doi: 10.1136/ard.2006.058404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17038473" target="_blank">17038473</a><a href="/pmc/articles/PMC1798374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2594)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38321317">Drug-Induced Progressive Multifocal Leukoencephalopathy (PML): A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rindi LV,
|
||
Zaçe D,
|
||
Braccialarghe N,
|
||
Massa B,
|
||
Barchi V,
|
||
Iannazzo R,
|
||
Fato I,
|
||
De Maria F,
|
||
Kontogiannis D,
|
||
Malagnino V,
|
||
Sarmati L,
|
||
Iannetta M</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2024 Apr;47(4):333-354.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s40264-023-01383-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321317" target="_blank">38321317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30571397">Fatal Stroke in Pregnancy and the Puerperium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lappin JM,
|
||
Darke S,
|
||
Duflou J,
|
||
Kaye S,
|
||
Farrell M</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2018 Dec;49(12):3050-3053.
|
||
doi: 10.1161/STROKEAHA.118.023274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30571397" target="_blank">30571397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405832">Beyond sepsis: Staphylococcus epidermidis is an underestimated but significant contributor to neonatal morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong Y,
|
||
Speer CP,
|
||
Glaser K</span><br />
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<span class="medgenPMjournal">Virulence</span>
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2018 Jan 1;9(1):621-633.
|
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doi: 10.1080/21505594.2017.1419117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405832" target="_blank">29405832</a><a href="/pmc/articles/PMC5955464" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29304918">Progressive Multifocal Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blessing MM,
|
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Raghunathan A,
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Erickson LA</span><br />
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<span class="medgenPMjournal">Mayo Clin Proc</span>
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2018 Jan;93(1):123-125.
|
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doi: 10.1016/j.mayocp.2017.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29304918" target="_blank">29304918</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/22422205">Peroxisomal leukoencephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poll-The BT,
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<span class="medgenPMjournal">Semin Neurol</span>
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2012 Feb;32(1):42-50.
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<span class="bold">PMID: </span><a href="/pubmed/22422205" target="_blank">22422205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2424)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38321317">Drug-Induced Progressive Multifocal Leukoencephalopathy (PML): A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rindi LV,
|
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Zaçe D,
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Braccialarghe N,
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Massa B,
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Barchi V,
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Iannazzo R,
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Fato I,
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De Maria F,
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Kontogiannis D,
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Malagnino V,
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Sarmati L,
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Iannetta M</span><br />
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<span class="medgenPMjournal">Drug Saf</span>
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2024 Apr;47(4):333-354.
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||
Epub 2024 Feb 7
|
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doi: 10.1007/s40264-023-01383-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321317" target="_blank">38321317</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/30422209">Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury: A Systematic Review and Meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Debette S,
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Schilling S,
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Duperron MG,
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Larsson SC,
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Markus HS</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2019 Jan 1;76(1):81-94.
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doi: 10.1001/jamaneurol.2018.3122.
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<span class="bold">PMID: </span><a href="/pubmed/30422209" target="_blank">30422209</a><a href="/pmc/articles/PMC6439887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29643404">Canine NAPEPLD-associated models of human myelin disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Minor KM,
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Letko A,
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Becker D,
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Drögemüller M,
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Bellekom SR,
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Leegwater PAJ,
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Stassen QEM,
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Putschbach K,
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Fischer A,
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Matiasek K,
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Ekenstedt KJ,
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Furrow E,
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Patterson EE,
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Platt SR,
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Kelly PA,
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Cassidy JP,
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Lucot K,
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Martineau H,
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Muir CF,
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Henke D,
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Oevermann A,
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Jagannathan V,
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2018 Apr 11;8(1):5818.
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<span class="bold">PMID: </span><a href="/pubmed/29643404" target="_blank">29643404</a><a href="/pmc/articles/PMC5895582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28975841">Progressive Multifocal Leukoencephalopathy and Monoclonal Antibodies: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bohra C,
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<span class="bold">PMID: </span><a href="/pubmed/28975841" target="_blank">28975841</a><a href="/pmc/articles/PMC5937251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/15018695">Caregiver-Administered Neuropsychiatric Inventory (CGA-NPI).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang SJ,
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Choi SH,
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Lee BH,
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Jeong Y,
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Han IW,
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Cummings JL,
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<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
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2004 Mar;17(1):32-5.
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doi: 10.1177/089198873258818.
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<span class="bold">PMID: </span><a href="/pubmed/15018695" target="_blank">15018695</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3016)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35366021">Sleep apnea and the risk of dementia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guay-Gagnon M,
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Vat S,
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Forget MF,
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Tremblay-Gravel M,
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Ducharme S,
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Nguyen QD,
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Desmarais P</span><br />
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<span class="medgenPMjournal">J Sleep Res</span>
|
||
2022 Oct;31(5):e13589.
|
||
Epub 2022 Apr 2
|
||
doi: 10.1111/jsr.13589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35366021" target="_blank">35366021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35301183">Physical activity as a protective factor for dementia and Alzheimer's disease: systematic review, meta-analysis and quality assessment of cohort and case-control studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iso-Markku P,
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Kujala UM,
|
||
Knittle K,
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Polet J,
|
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Vuoksimaa E,
|
||
Waller K</span><br />
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||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2022 Jun;56(12):701-709.
|
||
Epub 2022 Mar 17
|
||
doi: 10.1136/bjsports-2021-104981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35301183" target="_blank">35301183</a><a href="/pmc/articles/PMC9163715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34918337">Antipsychotics for agitation and psychosis in people with Alzheimer's disease and vascular dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mühlbauer V,
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Möhler R,
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Dichter MN,
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Zuidema SU,
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Köpke S,
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Luijendijk HJ</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Dec 17;12(12):CD013304.
|
||
doi: 10.1002/14651858.CD013304.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34918337" target="_blank">34918337</a><a href="/pmc/articles/PMC8678509" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34532852">Cannabinoids for the treatment of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosnjak Kuharic D,
|
||
Markovic D,
|
||
Brkovic T,
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||
Jeric Kegalj M,
|
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Rubic Z,
|
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Vuica Vukasovic A,
|
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Jeroncic A,
|
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Puljak L</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Sep 17;9(9):CD012820.
|
||
doi: 10.1002/14651858.CD012820.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34532852" target="_blank">34532852</a><a href="/pmc/articles/PMC8446835" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31884487">The Prevalence of Dementia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Q,
|
||
Tan CC,
|
||
Xu W,
|
||
Hu H,
|
||
Cao XP,
|
||
Dong Q,
|
||
Tan L,
|
||
Yu JT</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2020;73(3):1157-1166.
|
||
doi: 10.3233/JAD-191092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31884487" target="_blank">31884487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (162)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310675%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
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<li><a href="/gtr/tests?term=C4310675%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(encephalopathy%2C%20progressive%2C%20early-onset%2C%20with%20brain%20edema%20and%2For%20leukoencephalopathy%2C%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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