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<meta name="keywords" content="C5542181, disease or syndrome, htrdc, hypertaurinuric cardiomyopathy, hypotaurinemic retinal degeneration and cardiomyopathy, slc6a6, 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="Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1779589
|
||
ConceptID=C5542181
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypotaurinemic retinal degeneration and cardiomyopathy<span class="h1sub">(HTRDC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779589</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:">C5542181</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hypertaurinuric cardiomyopathy</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="SLC6A6 - ID: 6533 - NCBI Gene" href="/gene/6533" class="medgenPMinfo">SLC6A6</a> (3p25.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007777" target="_blank">MONDO:0007777</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/145350" target="_blank">145350</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">Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020). [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_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</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.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_226908"><div><strong>Left ventricular systolic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226908</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.">C1277187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226908">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20systolic%20dysfunction%22%5BClinical%20Features%5D%20OR%20226908%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1702617"><div><strong>Hypotaurinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1702617</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.">C5139567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased amount of taurine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1702617">Feature record</a> | <a href="/medgen?term=%22Hypotaurinemia%22%5BClinical%20Features%5D%20OR%201702617%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_116124"><div><strong>Peripheral visual field loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116124</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.">C0241688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116124">Feature record</a> | <a href="/medgen?term=%22Peripheral%20visual%20field%20loss%22%5BClinical%20Features%5D%20OR%20116124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140841"><div><strong>Macular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140841</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.">C0423421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140841">Feature record</a> | <a href="/medgen?term=%22Macular%20atrophy%22%5BClinical%20Features%5D%20OR%20140841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341009"><div><strong>Hyperopia, high</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341009</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.">C1855925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of hypermetropia with over +5.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341009">Feature record</a> | <a href="/medgen?term=%22Hyperopia%2C%20high%22%5BClinical%20Features%5D%20OR%20341009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347513"><div><strong>Retinal pigment epithelial mottling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347513</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.">C1857644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347513">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20mottling%22%5BClinical%20Features%5D%20OR%20347513%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480605"><div><strong>Attenuation of retinal blood vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480605</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.">C3278975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480605">Feature record</a> | <a href="/medgen?term=%22Attenuation%20of%20retinal%20blood%20vessels%22%5BClinical%20Features%5D%20OR%20480605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_762617"><div><strong>Retinal thinning</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762617</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.">C3549703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762617">Feature record</a> | <a href="/medgen?term=%22Retinal%20thinning%22%5BClinical%20Features%5D%20OR%20762617%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765930"><div><strong>Peripheral retinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765930</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.">C3553016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765930">Feature record</a> | <a href="/medgen?term=%22Peripheral%20retinal%20atrophy%22%5BClinical%20Features%5D%20OR%20765930%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892581"><div><strong>Photoreceptor layer loss on macular OCT</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892581</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.">C4073079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892581">Feature record</a> | <a href="/medgen?term=%22Photoreceptor%20layer%20loss%20on%20macular%20OCT%22%5BClinical%20Features%5D%20OR%20892581%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">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1702617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotaurinemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_226908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular systolic dysfunction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</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_480605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attenuation of retinal blood vessels</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperopia, high</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular atrophy</a></span></li><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_765930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral retinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral visual field loss</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photoreceptor layer loss on macular OCT</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial mottling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_762617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal thinning</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/32572200">Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonarakis SE</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2020 Nov;28(11):1479-1480.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1038/s41431-020-0671-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32572200" target="_blank">32572200</a><a href="/pmc/articles/PMC7576131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31042827">Stem Cells in the Treatment of Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blau HM,
|
||
Daley GQ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 May 2;380(18):1748-1760.
|
||
doi: 10.1056/NEJMra1716145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31042827" target="_blank">31042827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25330715">The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaa A,
|
||
Goldstein A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2015 Feb;16(1):1-9.
|
||
Epub 2014 Oct 20
|
||
doi: 10.1111/pedi.12223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25330715" target="_blank">25330715</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy)%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 (17)</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/36039885">Kidney manifestations of mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gazdikova K,
|
||
Fojtova A,
|
||
Ticha L</span><br />
|
||
<span class="medgenPMjournal">Bratisl Lek Listy</span>
|
||
2022;123(9):659-671.
|
||
doi: 10.4149/BLL_2022_106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36039885" target="_blank">36039885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30086109">Neuroimaging of Mitochondrial Cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves CAPF,
|
||
Gonçalves FG,
|
||
Grieb D,
|
||
Lucato LT,
|
||
Goldstein AC,
|
||
Zuccoli G</span><br />
|
||
<span class="medgenPMjournal">Top Magn Reson Imaging</span>
|
||
2018 Aug;27(4):219-240.
|
||
doi: 10.1097/RMR.0000000000000173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30086109" target="_blank">30086109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28577739">Mitochondrial cytopathies and the kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emma F,
|
||
Salviati L</span><br />
|
||
<span class="medgenPMjournal">Nephrol Ther</span>
|
||
2017 Apr;13 Suppl 1:S23-S28.
|
||
doi: 10.1016/j.nephro.2017.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28577739" target="_blank">28577739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25330715">The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaa A,
|
||
Goldstein A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2015 Feb;16(1):1-9.
|
||
Epub 2014 Oct 20
|
||
doi: 10.1111/pedi.12223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25330715" target="_blank">25330715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3862080">Metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gullotta F</span><br />
|
||
<span class="medgenPMjournal">Pathol Res Pract</span>
|
||
1985 Jul;180(1):10-8.
|
||
doi: 10.1016/S0344-0338(85)80069-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3862080" target="_blank">3862080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (121)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253820">Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimi A,
|
||
Ishikawa K,
|
||
Niemeyer C,
|
||
Grünert SC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 17;17(1):379.
|
||
doi: 10.1186/s13023-022-02538-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253820" target="_blank">36253820</a><a href="/pmc/articles/PMC9575259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578508">Ciliopathy: Alström Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Aycinena ARP,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:179-180.
|
||
doi: 10.1007/978-3-319-95046-4_35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578508" target="_blank">30578508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30086109">Neuroimaging of Mitochondrial Cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves CAPF,
|
||
Gonçalves FG,
|
||
Grieb D,
|
||
Lucato LT,
|
||
Goldstein AC,
|
||
Zuccoli G</span><br />
|
||
<span class="medgenPMjournal">Top Magn Reson Imaging</span>
|
||
2018 Aug;27(4):219-240.
|
||
doi: 10.1097/RMR.0000000000000173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30086109" target="_blank">30086109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25330715">The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaa A,
|
||
Goldstein A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2015 Feb;16(1):1-9.
|
||
Epub 2014 Oct 20
|
||
doi: 10.1111/pedi.12223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25330715" target="_blank">25330715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19584620">Mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edmond JC</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2009 Summer;49(3):27-33.
|
||
doi: 10.1097/IIO.0b013e3181a8de58.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19584620" target="_blank">19584620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (261)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39729257">Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung V,
|
||
Wong JG,
|
||
Grigg JR</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2025 Feb;150(1):41-46.
|
||
Epub 2024 Dec 27
|
||
doi: 10.1007/s10633-024-09999-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39729257" target="_blank">39729257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38161763">Propofol and Kearns-Sayre Syndrome: An idiographic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddali MM,
|
||
Munasinghe TD,
|
||
Al Aamri I,
|
||
Al-Abri IA,
|
||
Al-Adawi S</span><br />
|
||
<span class="medgenPMjournal">Sultan Qaboos Univ Med J</span>
|
||
2023 Dec;23(Spec Iss):63-67.
|
||
Epub 2023 Nov 30
|
||
doi: 10.18295/squmj.12.2023.080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38161763" target="_blank">38161763</a><a href="/pmc/articles/PMC10754313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32787478">Retinoschisis associated with Kearns-Sayre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chertkof J,
|
||
Hufnagel RB,
|
||
Blain D,
|
||
Gropman AL,
|
||
Brooks BP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2020 Oct;41(5):497-500.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1080/13816810.2020.1799416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32787478" target="_blank">32787478</a><a href="/pmc/articles/PMC8127726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31672277">Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JJ,
|
||
Ishihara K,
|
||
Notomi S,
|
||
Efstathiou NE,
|
||
Ueta T,
|
||
Maidana D,
|
||
Chen X,
|
||
Iesato Y,
|
||
Caligiana A,
|
||
Vavvas DG</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2020 Jan 8;521(2):414-419.
|
||
Epub 2019 Oct 28
|
||
doi: 10.1016/j.bbrc.2019.10.138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31672277" target="_blank">31672277</a><a href="/pmc/articles/PMC6935401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20464573">Ataxia with vitamin E deficiency: update of molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Donato I,
|
||
Bianchi S,
|
||
Federico A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2010 Aug;31(4):511-5.
|
||
Epub 2010 May 13
|
||
doi: 10.1007/s10072-010-0261-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20464573" target="_blank">20464573</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (57)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253820">Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimi A,
|
||
Ishikawa K,
|
||
Niemeyer C,
|
||
Grünert SC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 17;17(1):379.
|
||
doi: 10.1186/s13023-022-02538-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253820" target="_blank">36253820</a><a href="/pmc/articles/PMC9575259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32787478">Retinoschisis associated with Kearns-Sayre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chertkof J,
|
||
Hufnagel RB,
|
||
Blain D,
|
||
Gropman AL,
|
||
Brooks BP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2020 Oct;41(5):497-500.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1080/13816810.2020.1799416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32787478" target="_blank">32787478</a><a href="/pmc/articles/PMC8127726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28004807">Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DA,
|
||
Perry JB,
|
||
Allen ME,
|
||
Sabbah HN,
|
||
Stauffer BL,
|
||
Shaikh SR,
|
||
Cleland JG,
|
||
Colucci WS,
|
||
Butler J,
|
||
Voors AA,
|
||
Anker SD,
|
||
Pitt B,
|
||
Pieske B,
|
||
Filippatos G,
|
||
Greene SJ,
|
||
Gheorghiade M</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2017 Apr;14(4):238-250.
|
||
Epub 2016 Dec 22
|
||
doi: 10.1038/nrcardio.2016.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28004807" target="_blank">28004807</a><a href="/pmc/articles/PMC5350035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996063">Mitochondrial cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Cell Calcium</span>
|
||
2016 Sep;60(3):199-206.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1016/j.ceca.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996063" target="_blank">26996063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2425393">The hereditary ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skre H,
|
||
Haugstad TS,
|
||
Berg K</span><br />
|
||
<span class="medgenPMjournal">Prog Med Genet</span>
|
||
1985;6:123-240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2425393" target="_blank">2425393</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (83)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38161763">Propofol and Kearns-Sayre Syndrome: An idiographic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddali MM,
|
||
Munasinghe TD,
|
||
Al Aamri I,
|
||
Al-Abri IA,
|
||
Al-Adawi S</span><br />
|
||
<span class="medgenPMjournal">Sultan Qaboos Univ Med J</span>
|
||
2023 Dec;23(Spec Iss):63-67.
|
||
Epub 2023 Nov 30
|
||
doi: 10.18295/squmj.12.2023.080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38161763" target="_blank">38161763</a><a href="/pmc/articles/PMC10754313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34479707">Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García García LC,
|
||
Zamorano Martín F,
|
||
Rocha de Lossada C,
|
||
García Lorente M,
|
||
Luque Aranda G,
|
||
Escudero Gómez J</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2021 Sep;96(9):496-499.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1016/j.oftale.2020.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34479707" target="_blank">34479707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33270091">Bilateral Ptosis and Ophthalmoplegia in a Young Man.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akella SS,
|
||
Barmettler A</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 Feb 1;139(2):234-235.
|
||
doi: 10.1001/jamaophthalmol.2020.4071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33270091" target="_blank">33270091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31672277">Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JJ,
|
||
Ishihara K,
|
||
Notomi S,
|
||
Efstathiou NE,
|
||
Ueta T,
|
||
Maidana D,
|
||
Chen X,
|
||
Iesato Y,
|
||
Caligiana A,
|
||
Vavvas DG</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2020 Jan 8;521(2):414-419.
|
||
Epub 2019 Oct 28
|
||
doi: 10.1016/j.bbrc.2019.10.138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31672277" target="_blank">31672277</a><a href="/pmc/articles/PMC6935401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4034429">Ocular myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomé FM,
|
||
Fardeau M</span><br />
|
||
<span class="medgenPMjournal">Pathol Res Pract</span>
|
||
1985 Jul;180(1):19-27.
|
||
doi: 10.1016/S0344-0338(85)80070-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4034429" target="_blank">4034429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (112)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37678265">Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viering DHHM,
|
||
Vermeltfoort L,
|
||
Bindels RJM,
|
||
Deinum J,
|
||
de Baaij JHF</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2023 Nov 1;34(11):1875-1888.
|
||
Epub 2023 Sep 6
|
||
doi: 10.1681/ASN.0000000000000224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37678265" target="_blank">37678265</a><a href="/pmc/articles/PMC10631606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642644">The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imamura T,
|
||
Sumitomo N,
|
||
Muraji S,
|
||
Mori H,
|
||
Osada Y,
|
||
Oyanagi T,
|
||
Kojima T,
|
||
Yoshiba S,
|
||
Kobayashi T,
|
||
Ono K</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2019 Mar 15;279:105-111.
|
||
Epub 2018 Dec 27
|
||
doi: 10.1016/j.ijcard.2018.12.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642644" target="_blank">30642644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28472362">Association of Diabetic Macular Edema and Proliferative Diabetic Retinopathy With Cardiovascular Disease: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie J,
|
||
Ikram MK,
|
||
Cotch MF,
|
||
Klein B,
|
||
Varma R,
|
||
Shaw JE,
|
||
Klein R,
|
||
Mitchell P,
|
||
Lamoureux EL,
|
||
Wong TY</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2017 Jun 1;135(6):586-593.
|
||
doi: 10.1001/jamaophthalmol.2017.0988.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28472362" target="_blank">28472362</a><a href="/pmc/articles/PMC5593137" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25540845">Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kabunga P,
|
||
Lau AK,
|
||
Phan K,
|
||
Puranik R,
|
||
Liang C,
|
||
Davis RL,
|
||
Sue CM,
|
||
Sy RW</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2015 Feb 15;181:303-10.
|
||
Epub 2014 Dec 13
|
||
doi: 10.1016/j.ijcard.2014.12.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25540845" target="_blank">25540845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypotaurinemic%20retinal%20degeneration%20and%20cardiomyopathy%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 (4)</a></div></div>
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