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<meta name="keywords" content="C5436703, combined oxidative phosphorylation deficiency 51, coxpd51, disease or syndrome, ptcd3, 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="Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1757992
|
||
ConceptID=C5436703
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined oxidative phosphorylation deficiency 51<span class="h1sub">(COXPD51)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1757992</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."><span class="highlight" style="background-color:">C5436703</span></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>COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51</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="PTCD3 - ID: 55037 - NCBI Gene" href="/gene/55037" class="medgenPMinfo">PTCD3</a> (2p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033631" target="_blank">MONDO:0033631</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619057" target="_blank">619057</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>
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<div class="portlet mgSection" id="ID_100">
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<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">Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<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_3931"><div><strong>Severe short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3931</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.">C0013336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3931">Feature record</a> | <a href="/medgen?term=%22Severe%20short%20stature%22%5BClinical%20Features%5D%20OR%203931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_847783"><div><strong>Nasogastric tube feeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>847783</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.">C3853581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Medical Device</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Nasogastric%20tube%20feeding%22%5BClinical%20Features%5D%20OR%20847783%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%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_868380"><div><strong>Focal T2 hyperintense thalamic lesion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868380</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.">C4022774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868380">Feature record</a> | <a href="/medgen?term=%22Focal%20T2%20hyperintense%20thalamic%20lesion%22%5BClinical%20Features%5D%20OR%20868380%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_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_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10814"><div><strong>Aspiration pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10814</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.">C0032290</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10814">Feature record</a> | <a href="/medgen?term=%22Aspiration%20pneumonia%22%5BClinical%20Features%5D%20OR%2010814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_863"><div><strong>Caesarian section</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863</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.">C0007876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Therapeutic or Preventive Procedure</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Caesarian%20section%22%5BClinical%20Features%5D%20OR%20863%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_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</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.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%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_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_863" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Caesarian section</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_847783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasogastric tube feeding</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_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aspiration pneumonia</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_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_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</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_868380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal T2 hyperintense thalamic lesion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</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_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</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">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe short stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</a></span></li></ul></li></ul></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/36680545">Validation of a targeted metabolomics panel for improved second-tier newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mak J,
|
||
Peng G,
|
||
Le A,
|
||
Gandotra N,
|
||
Enns GM,
|
||
Scharfe C,
|
||
Cowan TM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Mar;46(2):194-205.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1002/jimd.12591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680545" target="_blank">36680545</a><a href="/pmc/articles/PMC10023470" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26547562">Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roe CR,
|
||
Brunengraber H</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Dec;116(4):260-8.
|
||
Epub 2015 Oct 24
|
||
doi: 10.1016/j.ymgme.2015.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26547562" target="_blank">26547562</a><a href="/pmc/articles/PMC4712637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24793058">Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bricout M,
|
||
Grévent D,
|
||
Lebre AS,
|
||
Rio M,
|
||
Desguerre I,
|
||
De Lonlay P,
|
||
Valayannopoulos V,
|
||
Brunelle F,
|
||
Rötig A,
|
||
Munnich A,
|
||
Boddaert N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2014 Jul;51(7):429-35.
|
||
Epub 2014 May 1
|
||
doi: 10.1136/jmedgenet-2013-102256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24793058" target="_blank">24793058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20oxidative%20phosphorylation%20deficiency%2051)%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 (5)</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/37989463">Congenital neutropenia: From lab bench to clinic bedside and back.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobrewa W,
|
||
Bielska M,
|
||
Bąbol-Pokora K,
|
||
Janczar S,
|
||
Młynarski W</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2024 Jan-Jun;793:108476.
|
||
Epub 2023 Nov 19
|
||
doi: 10.1016/j.mrrev.2023.108476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37989463" target="_blank">37989463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37453291">Recent advances in neurometabolic diseases: The genetic role in the modern era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tein I</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Aug;145:109338.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1016/j.yebeh.2023.109338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37453291" target="_blank">37453291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33444924">Comprehensive molecular and clinicopathological profiling of desmoid tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohsaka S,
|
||
Hirata M,
|
||
Ikegami M,
|
||
Ueno T,
|
||
Kojima S,
|
||
Sakai T,
|
||
Ito K,
|
||
Naka N,
|
||
Ogura K,
|
||
Kawai A,
|
||
Iwata S,
|
||
Okuma T,
|
||
Yonemoto T,
|
||
Kobayashi H,
|
||
Suehara Y,
|
||
Hiraga H,
|
||
Kawamoto T,
|
||
Motoi T,
|
||
Oda Y,
|
||
Matsubara D,
|
||
Matsuda K,
|
||
Nishida Y,
|
||
Mano H</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2021 Mar;145:109-120.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.ejca.2020.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33444924" target="_blank">33444924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24793058">Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bricout M,
|
||
Grévent D,
|
||
Lebre AS,
|
||
Rio M,
|
||
Desguerre I,
|
||
De Lonlay P,
|
||
Valayannopoulos V,
|
||
Brunelle F,
|
||
Rötig A,
|
||
Munnich A,
|
||
Boddaert N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2014 Jul;51(7):429-35.
|
||
Epub 2014 May 1
|
||
doi: 10.1136/jmedgenet-2013-102256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24793058" target="_blank">24793058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19665816">Myopathy and neuropathy associated with nucleos(t)ide analog therapy for hepatitis B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleischer RD,
|
||
Lok AS</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2009 Oct;51(4):787-91.
|
||
Epub 2009 Jul 1
|
||
doi: 10.1016/j.jhep.2009.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19665816" target="_blank">19665816</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37453291">Recent advances in neurometabolic diseases: The genetic role in the modern era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tein I</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Aug;145:109338.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1016/j.yebeh.2023.109338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37453291" target="_blank">37453291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36680545">Validation of a targeted metabolomics panel for improved second-tier newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mak J,
|
||
Peng G,
|
||
Le A,
|
||
Gandotra N,
|
||
Enns GM,
|
||
Scharfe C,
|
||
Cowan TM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Mar;46(2):194-205.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1002/jimd.12591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680545" target="_blank">36680545</a><a href="/pmc/articles/PMC10023470" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24791413">Study of photodynamic, sonodynamic and antioxidative influence on HeLa cell line.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomankova K,
|
||
Kolarova H,
|
||
Vachutka J,
|
||
Zapletalova J,
|
||
Hanakova A,
|
||
Kaplova E</span><br />
|
||
<span class="medgenPMjournal">Indian J Biochem Biophys</span>
|
||
2014 Feb;51(1):19-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24791413" target="_blank">24791413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16960846">Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiesbauer M,
|
||
Meierhofer D,
|
||
Mayr JA,
|
||
Sperl W,
|
||
Paulweber B,
|
||
Kofler B</span><br />
|
||
<span class="medgenPMjournal">Electrophoresis</span>
|
||
2006 Oct;27(19):3864-8.
|
||
doi: 10.1002/elps.200600086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16960846" target="_blank">16960846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12037739">Impaired glucose effectiveness in chronic progressive external ophthalmoplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker R,
|
||
Laube H,
|
||
Laube H,
|
||
Linn T,
|
||
Pabst W,
|
||
Damian MS</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2002 Jun;51(6):796-800.
|
||
doi: 10.1053/meta.2002.32625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12037739" target="_blank">12037739</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19665816">Myopathy and neuropathy associated with nucleos(t)ide analog therapy for hepatitis B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleischer RD,
|
||
Lok AS</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2009 Oct;51(4):787-91.
|
||
Epub 2009 Jul 1
|
||
doi: 10.1016/j.jhep.2009.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19665816" target="_blank">19665816</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16960846">Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiesbauer M,
|
||
Meierhofer D,
|
||
Mayr JA,
|
||
Sperl W,
|
||
Paulweber B,
|
||
Kofler B</span><br />
|
||
<span class="medgenPMjournal">Electrophoresis</span>
|
||
2006 Oct;27(19):3864-8.
|
||
doi: 10.1002/elps.200600086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16960846" target="_blank">16960846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12668570">Nucleoside analogues and HIV: the combined cost to mitochondria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherry CL,
|
||
Wesselingh SL</span><br />
|
||
<span class="medgenPMjournal">J Antimicrob Chemother</span>
|
||
2003 May;51(5):1091-3.
|
||
Epub 2003 Mar 28
|
||
doi: 10.1093/jac/dkg203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12668570" target="_blank">12668570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7856620">Zidovudine-associated myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paradis J,
|
||
Calis KA</span><br />
|
||
<span class="medgenPMjournal">Am J Hosp Pharm</span>
|
||
1994 Dec 15;51(24):3026-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7856620" target="_blank">7856620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2864473">Enzyme studies in biotin-responsive disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartlett K,
|
||
Ghneim HK,
|
||
Stirk HJ,
|
||
Wastell H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1985;8 Suppl 1:46-52.
|
||
doi: 10.1007/BF01800659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2864473" target="_blank">2864473</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38166857">Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Xiang F,
|
||
Li D,
|
||
Yang F,
|
||
Yu S,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2024 Jan 2;24(1):15.
|
||
doi: 10.1186/s12883-023-03480-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38166857" target="_blank">38166857</a><a href="/pmc/articles/PMC10759640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37989463">Congenital neutropenia: From lab bench to clinic bedside and back.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobrewa W,
|
||
Bielska M,
|
||
Bąbol-Pokora K,
|
||
Janczar S,
|
||
Młynarski W</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2024 Jan-Jun;793:108476.
|
||
Epub 2023 Nov 19
|
||
doi: 10.1016/j.mrrev.2023.108476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37989463" target="_blank">37989463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37505397">Computational neurosciences and quantitative systems pharmacology: a powerful combination for supporting drug development in neurodegenerative diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geerts H,
|
||
Bergeler S,
|
||
Lytton WW,
|
||
van der Graaf PH</span><br />
|
||
<span class="medgenPMjournal">J Pharmacokinet Pharmacodyn</span>
|
||
2024 Oct;51(5):563-573.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1007/s10928-023-09876-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37505397" target="_blank">37505397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33444924">Comprehensive molecular and clinicopathological profiling of desmoid tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohsaka S,
|
||
Hirata M,
|
||
Ikegami M,
|
||
Ueno T,
|
||
Kojima S,
|
||
Sakai T,
|
||
Ito K,
|
||
Naka N,
|
||
Ogura K,
|
||
Kawai A,
|
||
Iwata S,
|
||
Okuma T,
|
||
Yonemoto T,
|
||
Kobayashi H,
|
||
Suehara Y,
|
||
Hiraga H,
|
||
Kawamoto T,
|
||
Motoi T,
|
||
Oda Y,
|
||
Matsubara D,
|
||
Matsuda K,
|
||
Nishida Y,
|
||
Mano H</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2021 Mar;145:109-120.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.ejca.2020.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33444924" target="_blank">33444924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28555711">Determination of the Mechanisms that Cause Sarcopenia through cDNA Microarray.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong HO,
|
||
Park D,
|
||
Im E,
|
||
Lee J,
|
||
Im DS,
|
||
Chung HY</span><br />
|
||
<span class="medgenPMjournal">J Frailty Aging</span>
|
||
2017;6(2):97-102.
|
||
doi: 10.14283/jfa.2017.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28555711" target="_blank">28555711</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38688959">Polyphosphate and tyrosine phosphorylation in the N-terminal domain of the human mitochondrial Lon protease disrupts its functions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kunová N,
|
||
Ondrovičová G,
|
||
Bauer JA,
|
||
Krajčovičová V,
|
||
Pinkas M,
|
||
Stojkovičová B,
|
||
Havalová H,
|
||
Lukáčová V,
|
||
Kohútová L,
|
||
Košťan J,
|
||
Martináková L,
|
||
Baráth P,
|
||
Nováček J,
|
||
Zoll S,
|
||
Kereϊche S,
|
||
Kutejová E,
|
||
Pevala V</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Apr 30;14(1):9923.
|
||
doi: 10.1038/s41598-024-60030-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38688959" target="_blank">38688959</a><a href="/pmc/articles/PMC11061198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37989463">Congenital neutropenia: From lab bench to clinic bedside and back.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobrewa W,
|
||
Bielska M,
|
||
Bąbol-Pokora K,
|
||
Janczar S,
|
||
Młynarski W</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2024 Jan-Jun;793:108476.
|
||
Epub 2023 Nov 19
|
||
doi: 10.1016/j.mrrev.2023.108476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37989463" target="_blank">37989463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33444924">Comprehensive molecular and clinicopathological profiling of desmoid tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohsaka S,
|
||
Hirata M,
|
||
Ikegami M,
|
||
Ueno T,
|
||
Kojima S,
|
||
Sakai T,
|
||
Ito K,
|
||
Naka N,
|
||
Ogura K,
|
||
Kawai A,
|
||
Iwata S,
|
||
Okuma T,
|
||
Yonemoto T,
|
||
Kobayashi H,
|
||
Suehara Y,
|
||
Hiraga H,
|
||
Kawamoto T,
|
||
Motoi T,
|
||
Oda Y,
|
||
Matsubara D,
|
||
Matsuda K,
|
||
Nishida Y,
|
||
Mano H</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2021 Mar;145:109-120.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.ejca.2020.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33444924" target="_blank">33444924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28555711">Determination of the Mechanisms that Cause Sarcopenia through cDNA Microarray.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong HO,
|
||
Park D,
|
||
Im E,
|
||
Lee J,
|
||
Im DS,
|
||
Chung HY</span><br />
|
||
<span class="medgenPMjournal">J Frailty Aging</span>
|
||
2017;6(2):97-102.
|
||
doi: 10.14283/jfa.2017.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28555711" target="_blank">28555711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16960846">Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiesbauer M,
|
||
Meierhofer D,
|
||
Mayr JA,
|
||
Sperl W,
|
||
Paulweber B,
|
||
Kofler B</span><br />
|
||
<span class="medgenPMjournal">Electrophoresis</span>
|
||
2006 Oct;27(19):3864-8.
|
||
doi: 10.1002/elps.200600086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16960846" target="_blank">16960846</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (21)</a></div></div>
|
||
</div>
|
||
|
||
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/23835682">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
Riphagen II,
|
||
Lindeman E,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Jul 9;(7):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23835682" target="_blank">23835682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2051%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5436703%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C5436703%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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