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<meta name="keywords" content="C0796192, congenital abnormality, disease or syndrome, mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity, van den bosch syndrome, 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="Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=162920
|
||
ConceptID=C0796192
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Van den Bosch syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162920</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.">C0796192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Van den Bosch syndrome (733110004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010754" target="_blank">MONDO:0010754</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/314500" target="_blank">314500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3417">ORPHA3417</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">
|
||
<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">Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867418"><div><strong>Abnormality of the skeletal system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867418</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.">C4021790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skeletal system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867418">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20skeletal%20system%22%5BClinical%20Features%5D%20OR%20867418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_450988"><div><strong>Acrokeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450988</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.">C0001202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/450988">Feature record</a> | <a href="/medgen?term=%22Acrokeratosis%22%5BClinical%20Features%5D%20OR%20450988%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1550"><div><strong>Anhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1550</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.">C0003028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to sweat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1550">Feature record</a> | <a href="/medgen?term=%22Anhidrosis%22%5BClinical%20Features%5D%20OR%201550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_944"><div><strong>Choroideremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>944</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:">C0008525</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/944">Feature record</a> | <a href="/medgen?term=%22Choroideremia%22%5BClinical%20Features%5D%20OR%20944%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 the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroideremia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_450988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrokeratosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anhidrosis</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_867418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the skeletal system</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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162920" target="_blank" href="/omim/314500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Van den Bosch syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842773" ref="tree=MeSH" title="MedGen record for Acrokeratoderma">Acrokeratoderma</a></span><ul><li><span class="matched_ds">Van den Bosch syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3012&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Van den Bosch syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35470096">Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena G,
|
||
van den Bosch J,
|
||
Akuthota P,
|
||
Kovalszki A,
|
||
Steinfeld J,
|
||
Kwon N,
|
||
Van Dyke MK</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 Aug;10(8):2125-2134.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.jaip.2022.03.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35470096" target="_blank">35470096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32267984">ISUOG Consensus Statement on rationalization of gynecological ultrasound services in context of SARS-CoV-2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bourne T,
|
||
Leonardi M,
|
||
Kyriacou C,
|
||
Al-Memar M,
|
||
Landolfo C,
|
||
Cibula D,
|
||
Condous G,
|
||
Metzger U,
|
||
Fischerova D,
|
||
Timmerman D,
|
||
van den Bosch T</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2020 Jun;55(6):879-885.
|
||
doi: 10.1002/uog.22047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32267984" target="_blank">32267984</a><a href="/pmc/articles/PMC7262398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2512431">Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wanders RJ,
|
||
Wiemer EA,
|
||
Brul S,
|
||
Schutgens RB,
|
||
van den Bosch H,
|
||
Tager JM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1989;12 Suppl 2:301-4.
|
||
doi: 10.1007/BF03335405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2512431" target="_blank">2512431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(van%20den%20bosch%20syndrome)%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 (14)</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/35470096">Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena G,
|
||
van den Bosch J,
|
||
Akuthota P,
|
||
Kovalszki A,
|
||
Steinfeld J,
|
||
Kwon N,
|
||
Van Dyke MK</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 Aug;10(8):2125-2134.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.jaip.2022.03.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35470096" target="_blank">35470096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830764">Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen S,
|
||
Picci C,
|
||
Ustinova K,
|
||
Benoy V,
|
||
Kutil Z,
|
||
Zhang G,
|
||
Tavares MT,
|
||
Pavlíček J,
|
||
Zimprich CA,
|
||
Robers MB,
|
||
Van Den Bosch L,
|
||
Bařinka C,
|
||
Langley B,
|
||
Kozikowski AP</span><br />
|
||
<span class="medgenPMjournal">J Med Chem</span>
|
||
2021 Apr 22;64(8):4810-4840.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1021/acs.jmedchem.0c02210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830764" target="_blank">33830764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22078749">Screening for uterine tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Bosch T,
|
||
Coosemans A,
|
||
Morina M,
|
||
Timmerman D,
|
||
Amant F</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Apr;26(2):257-66.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1016/j.bpobgyn.2011.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22078749" target="_blank">22078749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2509803">Prenatal and perinatal diagnosis of peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schutgens RB,
|
||
Schrakamp G,
|
||
Wanders RJ,
|
||
Heymans HS,
|
||
Tager JM,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1989;12 Suppl 1:118-34.
|
||
doi: 10.1007/BF01799291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2509803" target="_blank">2509803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3395335">Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wanders RJ,
|
||
Romeyn GJ,
|
||
van Roermund CW,
|
||
Schutgens RB,
|
||
van den Bosch H,
|
||
Tager JM</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
1988 Jul 15;154(1):33-8.
|
||
doi: 10.1016/0006-291x(88)90645-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3395335" target="_blank">3395335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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 (59)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38834317">European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bloomfield M,
|
||
Lautarescu A,
|
||
Heraty S,
|
||
Douglas S,
|
||
Violland P,
|
||
Plas R,
|
||
Ghosh A,
|
||
Van den Bosch K,
|
||
Eaton E,
|
||
Absoud M,
|
||
Battini R,
|
||
Blázquez Hinojosa A,
|
||
Bolshakova N,
|
||
Bölte S,
|
||
Bonanni P,
|
||
Borg J,
|
||
Calderoni S,
|
||
Calvo Escalona R,
|
||
Castelo-Branco M,
|
||
Castro-Fornieles J,
|
||
Caro P,
|
||
Cliquet F,
|
||
Danieli A,
|
||
Delorme R,
|
||
Elia M,
|
||
Hempel M,
|
||
Leblond CS,
|
||
Madeira N,
|
||
McAlonan G,
|
||
Milone R,
|
||
Molloy CJ,
|
||
Mouga S,
|
||
Montiel V,
|
||
Pina Rodrigues A,
|
||
Schaaf CP,
|
||
Serrano M,
|
||
Tammimies K,
|
||
Tye C,
|
||
Vigevano F,
|
||
Oliveira G,
|
||
Mazzone B,
|
||
O'Neill C,
|
||
Pender J,
|
||
Romero V,
|
||
Tillmann J,
|
||
Oakley B,
|
||
Murphy DGM,
|
||
Gallagher L,
|
||
Bourgeron T,
|
||
Chatham C,
|
||
Charman T</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2024 Jun 4;14(6):e080746.
|
||
doi: 10.1136/bmjopen-2023-080746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38834317" target="_blank">38834317</a><a href="/pmc/articles/PMC11163653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35470096">Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena G,
|
||
van den Bosch J,
|
||
Akuthota P,
|
||
Kovalszki A,
|
||
Steinfeld J,
|
||
Kwon N,
|
||
Van Dyke MK</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 Aug;10(8):2125-2134.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.jaip.2022.03.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35470096" target="_blank">35470096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33242422">Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dewan R,
|
||
Chia R,
|
||
Ding J,
|
||
Hickman RA,
|
||
Stein TD,
|
||
Abramzon Y,
|
||
Ahmed S,
|
||
Sabir MS,
|
||
Portley MK,
|
||
Tucci A,
|
||
Ibáñez K,
|
||
Shankaracharya FNU,
|
||
Keagle P,
|
||
Rossi G,
|
||
Caroppo P,
|
||
Tagliavini F,
|
||
Waldo ML,
|
||
Johansson PM,
|
||
Nilsson CF;
|
||
American Genome Center (TAGC);
|
||
FALS Sequencing Consortium;
|
||
Genomics England Research Consortium;
|
||
International ALS/FTD Genomics Consortium (iAFGC);
|
||
International FTD Genetics Consortium (IFGC);
|
||
International LBD Genomics Consortium (iLBDGC);
|
||
NYGC ALS Consortium;
|
||
PROSPECT Consortium,
|
||
Rowe JB,
|
||
Benussi L,
|
||
Binetti G,
|
||
Ghidoni R,
|
||
Jabbari E,
|
||
Viollet C,
|
||
Glass JD,
|
||
Singleton AB,
|
||
Silani V,
|
||
Ross OA,
|
||
Ryten M,
|
||
Torkamani A,
|
||
Tanaka T,
|
||
Ferrucci L,
|
||
Resnick SM,
|
||
Pickering-Brown S,
|
||
Brady CB,
|
||
Kowal N,
|
||
Hardy JA,
|
||
Van Deerlin V,
|
||
Vonsattel JP,
|
||
Harms MB,
|
||
Morris HR,
|
||
Ferrari R,
|
||
Landers JE,
|
||
Chiò A,
|
||
Gibbs JR,
|
||
Dalgard CL,
|
||
Scholz SW,
|
||
Traynor BJ</span><br />
|
||
<span class="medgenPMjournal">Neuron</span>
|
||
2021 Feb 3;109(3):448-460.e4.
|
||
Epub 2020 Nov 26
|
||
doi: 10.1016/j.neuron.2020.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33242422" target="_blank">33242422</a><a href="/pmc/articles/PMC7864894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22078749">Screening for uterine tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Bosch T,
|
||
Coosemans A,
|
||
Morina M,
|
||
Timmerman D,
|
||
Amant F</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Apr;26(2):257-66.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1016/j.bpobgyn.2011.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22078749" target="_blank">22078749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20385895">Juvenile-onset Alpers syndrome: interpreting MRI findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Visser NA,
|
||
Braun KP,
|
||
van den Bergh WM,
|
||
Leijten FS,
|
||
Willems CR,
|
||
Ramos L,
|
||
van den Bosch BJ,
|
||
Smeets HJ,
|
||
Wokke JH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2010 Apr 13;74(15):1231-3.
|
||
doi: 10.1212/WNL.0b013e3181d90005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20385895" target="_blank">20385895</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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 (58)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35470096">Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena G,
|
||
van den Bosch J,
|
||
Akuthota P,
|
||
Kovalszki A,
|
||
Steinfeld J,
|
||
Kwon N,
|
||
Van Dyke MK</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 Aug;10(8):2125-2134.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.jaip.2022.03.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35470096" target="_blank">35470096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830764">Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen S,
|
||
Picci C,
|
||
Ustinova K,
|
||
Benoy V,
|
||
Kutil Z,
|
||
Zhang G,
|
||
Tavares MT,
|
||
Pavlíček J,
|
||
Zimprich CA,
|
||
Robers MB,
|
||
Van Den Bosch L,
|
||
Bařinka C,
|
||
Langley B,
|
||
Kozikowski AP</span><br />
|
||
<span class="medgenPMjournal">J Med Chem</span>
|
||
2021 Apr 22;64(8):4810-4840.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1021/acs.jmedchem.0c02210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830764" target="_blank">33830764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22078749">Screening for uterine tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Bosch T,
|
||
Coosemans A,
|
||
Morina M,
|
||
Timmerman D,
|
||
Amant F</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Apr;26(2):257-66.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1016/j.bpobgyn.2011.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22078749" target="_blank">22078749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18818924">Clinical observations programme in SpA: disease parameters, treatment options and practical management issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elewaut D,
|
||
Van den Bosch F,
|
||
Verbruggen G,
|
||
de Keyser F,
|
||
Cruyssen BV,
|
||
Mielants H</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2009 Jan;29(3):239-50.
|
||
Epub 2008 Sep 26
|
||
doi: 10.1007/s00296-008-0714-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18818924" target="_blank">18818924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16856151">Vascular endothelial growth factor in amyotrophic lateral sclerosis and other neurodegenerative diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogaert E,
|
||
Van Damme P,
|
||
Van Den Bosch L,
|
||
Robberecht W</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2006 Oct;34(4):391-405.
|
||
doi: 10.1002/mus.20609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16856151" target="_blank">16856151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36688313">Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
de Bruijn JWC,
|
||
Dommisse JS,
|
||
Takkenberg JJM,
|
||
van den Bosch AE,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Feb;21(2):133-144.
|
||
Epub 2023 Jan 30
|
||
doi: 10.1080/14779072.2023.2172403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36688313" target="_blank">36688313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35705330">Aortic dilation and growth in women with Turner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
Schotte MH,
|
||
Snoeren M,
|
||
Bons LR,
|
||
van den Hoven AT,
|
||
Kardys I,
|
||
Budde RPJ,
|
||
van den Bosch AE,
|
||
Duijnhouwer AL,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2022 Dec 22;109(2):102-110.
|
||
doi: 10.1136/heartjnl-2022-320922.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35705330" target="_blank">35705330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20385895">Juvenile-onset Alpers syndrome: interpreting MRI findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Visser NA,
|
||
Braun KP,
|
||
van den Bergh WM,
|
||
Leijten FS,
|
||
Willems CR,
|
||
Ramos L,
|
||
van den Bosch BJ,
|
||
Smeets HJ,
|
||
Wokke JH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2010 Apr 13;74(15):1231-3.
|
||
doi: 10.1212/WNL.0b013e3181d90005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20385895" target="_blank">20385895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15201002">Surgical treatment of Pancoast tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitz CC,
|
||
de la Rivière AB,
|
||
van Swieten HA,
|
||
Duurkens VA,
|
||
Lammers JW,
|
||
van den Bosch JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2004 Jul;26(1):202-8.
|
||
doi: 10.1016/j.ejcts.2004.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15201002" target="_blank">15201002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9266692">Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vet EC,
|
||
Biermann J,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">Eur J Biochem</span>
|
||
1997 Jul 15;247(2):511-7.
|
||
doi: 10.1111/j.1432-1033.1997.00511.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9266692" target="_blank">9266692</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35470096">Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena G,
|
||
van den Bosch J,
|
||
Akuthota P,
|
||
Kovalszki A,
|
||
Steinfeld J,
|
||
Kwon N,
|
||
Van Dyke MK</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 Aug;10(8):2125-2134.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.jaip.2022.03.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35470096" target="_blank">35470096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35022662">Hyperresponsive cytosolic DNA-sensing pathway in monocytes from primary Sjögren's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huijser E,
|
||
Bodewes ILA,
|
||
Lourens MS,
|
||
van Helden-Meeuwsen CG,
|
||
van den Bosch TPP,
|
||
Grashof DGB,
|
||
van de Werken HJG,
|
||
Lopes AP,
|
||
van Roon JAG,
|
||
van Daele PLA,
|
||
Brkic Z,
|
||
Dik WA,
|
||
Versnel MA</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2022 Aug 3;61(8):3491-3496.
|
||
doi: 10.1093/rheumatology/keac016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35022662" target="_blank">35022662</a><a href="/pmc/articles/PMC9348764" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18818924">Clinical observations programme in SpA: disease parameters, treatment options and practical management issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elewaut D,
|
||
Van den Bosch F,
|
||
Verbruggen G,
|
||
de Keyser F,
|
||
Cruyssen BV,
|
||
Mielants H</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2009 Jan;29(3):239-50.
|
||
Epub 2008 Sep 26
|
||
doi: 10.1007/s00296-008-0714-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18818924" target="_blank">18818924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10683770">Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biermann J,
|
||
Gootjes J,
|
||
Wanders RJ,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">IUBMB Life</span>
|
||
1999 Dec;48(6):635-9.
|
||
doi: 10.1080/713803571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10683770" target="_blank">10683770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9266692">Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vet EC,
|
||
Biermann J,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">Eur J Biochem</span>
|
||
1997 Jul 15;247(2):511-7.
|
||
doi: 10.1111/j.1432-1033.1997.00511.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9266692" target="_blank">9266692</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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 (34)</a></div></div>
|
||
</div>
|
||
|
||
<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/36688313">Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
de Bruijn JWC,
|
||
Dommisse JS,
|
||
Takkenberg JJM,
|
||
van den Bosch AE,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Feb;21(2):133-144.
|
||
Epub 2023 Jan 30
|
||
doi: 10.1080/14779072.2023.2172403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36688313" target="_blank">36688313</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20den%20Bosch%20syndrome%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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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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