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<!--
|
||
UID=892439
|
||
ConceptID=C4025599
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased iduronate sulfatase level</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892439</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.">C4025599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Increased serum iduronate sulfatase activity</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003538">HP:0003538</a></td></tr>
|
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</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">An increased level of iduronate-2-sulfatase activity in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Increased iduronate sulfatase level</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841554" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration or activity">Abnormal circulating enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1814355" ref="tree=MeSH" title="MedGen record for Abnormal iduronate sulfatase concentration">Abnormal iduronate sulfatase concentration</a></span><ul><li><span class="matched_ds">Increased iduronate sulfatase level</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_10988"><div><strong>Pseudo-Hurler polydystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10988</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:">C0033788</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340743"><div><strong>GNPTG-mucolipidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340743</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.">C1854896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucolipidosis III gamma (ML III?) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood; the progressive course results in severe functional impairment and significant morbidity from chronic pain. Cardiorespiratory complications (restrictive lung disease from thoracic involvement, and thickening and insufficiency of the mitral and aortic valves) are rarely clinically significant. A few (probably <10%) affected individuals display mild cognitive impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340743">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435914"><div><strong>Mucolipidosis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435914</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.">C2673377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435914">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GNPTG-mucolipidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucolipidosis type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-Hurler polydystrophy</a></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/34717704">Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muenzer J,
|
||
Botha J,
|
||
Harmatz P,
|
||
Giugliani R,
|
||
Kampmann C,
|
||
Burton BK</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Oct 30;16(1):456.
|
||
doi: 10.1186/s13023-021-02052-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34717704" target="_blank">34717704</a><a href="/pmc/articles/PMC8557006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26360015">Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dalmau Serra J,
|
||
Vitoria Miñana I,
|
||
Calderón Fernández R,
|
||
Cortell Aznar I</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2015 Nov 6;145(9):392-8.
|
||
Epub 2015 Sep 8
|
||
doi: 10.1016/j.medcli.2015.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26360015" target="_blank">26360015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3080875">Hunter syndrome: prenatal diagnosis in maternal serum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zlotogora J,
|
||
Bach G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1986 Feb;38(2):253-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3080875" target="_blank">3080875</a><a href="/pmc/articles/PMC1684762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(increased%20iduronate%20sulfatase%20level)%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 (3)</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/26845288">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Feb 5;2(2):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26845288" target="_blank">26845288</a><a href="/pmc/articles/PMC7173756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21732093">Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke LA,
|
||
Hemmelgarn H,
|
||
Colobong K,
|
||
Thomas A,
|
||
Stockler S,
|
||
Casey R,
|
||
Chan A,
|
||
Fernoff P,
|
||
Mitchell J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Mar;35(2):355-62.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1007/s10545-011-9369-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21732093" target="_blank">21732093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22071845">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2011 Nov 9;(11):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22071845" target="_blank">22071845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19602578">Role of iduronate-2-sulfatase in glucose-stimulated insulin secretion by activation of exocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piquer S,
|
||
Casas S,
|
||
Quesada I,
|
||
Nadal A,
|
||
Julià M,
|
||
Novials A,
|
||
Gomis R</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Endocrinol Metab</span>
|
||
2009 Sep;297(3):E793-801.
|
||
Epub 2009 Jul 14
|
||
doi: 10.1152/ajpendo.90878.2008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19602578" target="_blank">19602578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6817638">Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown FR 3rd,
|
||
Hall CW,
|
||
Neufeld EF,
|
||
Munoz LL,
|
||
Braine H,
|
||
Andrzejewski S,
|
||
Camargo EE,
|
||
Mark SA,
|
||
Richard JM,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1982 Nov;13(3):309-18.
|
||
doi: 10.1002/ajmg.1320130314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6817638" target="_blank">6817638</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37470932">Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacques CED,
|
||
Guerreiro G,
|
||
Lopes FF,
|
||
de Souza CFM,
|
||
Giugliani R,
|
||
Vargas CR</span><br />
|
||
<span class="medgenPMjournal">Cell Biochem Biophys</span>
|
||
2023 Sep;81(3):533-542.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1007/s12013-023-01149-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37470932" target="_blank">37470932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26051019">A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimada Y,
|
||
Wakabayashi T,
|
||
Akiyama K,
|
||
Hoshina H,
|
||
Higuchi T,
|
||
Kobayashi H,
|
||
Eto Y,
|
||
Ida H,
|
||
Ohashi T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2016 Feb;117(2):140-3.
|
||
Epub 2015 May 21
|
||
doi: 10.1016/j.ymgme.2015.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26051019" target="_blank">26051019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345092">Mucopolysaccharidosis type II, Hunter's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:107-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345092" target="_blank">25345092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3080875">Hunter syndrome: prenatal diagnosis in maternal serum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zlotogora J,
|
||
Bach G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1986 Feb;38(2):253-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3080875" target="_blank">3080875</a><a href="/pmc/articles/PMC1684762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6817638">Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown FR 3rd,
|
||
Hall CW,
|
||
Neufeld EF,
|
||
Munoz LL,
|
||
Braine H,
|
||
Andrzejewski S,
|
||
Camargo EE,
|
||
Mark SA,
|
||
Richard JM,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1982 Nov;13(3):309-18.
|
||
doi: 10.1002/ajmg.1320130314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6817638" target="_blank">6817638</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37922836">Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seo JH,
|
||
Kosuga M,
|
||
Hamazaki T,
|
||
Shintaku H,
|
||
Okuyama T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2023 Dec;140(4):107709.
|
||
Epub 2023 Oct 18
|
||
doi: 10.1016/j.ymgme.2023.107709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37922836" target="_blank">37922836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37340133">Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchi PM,
|
||
Kulagina N,
|
||
Ilinskaya A,
|
||
Hoffpauir B,
|
||
Qian MG,
|
||
Sugimoto H</span><br />
|
||
<span class="medgenPMjournal">AAPS J</span>
|
||
2023 Jun 20;25(4):61.
|
||
doi: 10.1208/s12248-023-00821-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37340133" target="_blank">37340133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26845288">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Feb 5;2(2):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26845288" target="_blank">26845288</a><a href="/pmc/articles/PMC7173756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345092">Mucopolysaccharidosis type II, Hunter's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:107-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345092" target="_blank">25345092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6817638">Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown FR 3rd,
|
||
Hall CW,
|
||
Neufeld EF,
|
||
Munoz LL,
|
||
Braine H,
|
||
Andrzejewski S,
|
||
Camargo EE,
|
||
Mark SA,
|
||
Richard JM,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1982 Nov;13(3):309-18.
|
||
doi: 10.1002/ajmg.1320130314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6817638" target="_blank">6817638</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (20)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34717704">Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muenzer J,
|
||
Botha J,
|
||
Harmatz P,
|
||
Giugliani R,
|
||
Kampmann C,
|
||
Burton BK</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Oct 30;16(1):456.
|
||
doi: 10.1186/s13023-021-02052-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34717704" target="_blank">34717704</a><a href="/pmc/articles/PMC8557006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26845288">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Feb 5;2(2):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26845288" target="_blank">26845288</a><a href="/pmc/articles/PMC7173756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345092">Mucopolysaccharidosis type II, Hunter's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:107-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345092" target="_blank">25345092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24399699">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Jan 8;(1):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24399699" target="_blank">24399699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22071845">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2011 Nov 9;(11):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22071845" target="_blank">22071845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37340133">Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchi PM,
|
||
Kulagina N,
|
||
Ilinskaya A,
|
||
Hoffpauir B,
|
||
Qian MG,
|
||
Sugimoto H</span><br />
|
||
<span class="medgenPMjournal">AAPS J</span>
|
||
2023 Jun 20;25(4):61.
|
||
doi: 10.1208/s12248-023-00821-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37340133" target="_blank">37340133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37023503">Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith MC,
|
||
Belur LR,
|
||
Karlen AD,
|
||
Podetz-Pedersen K,
|
||
Erlanson O,
|
||
Laoharawee K,
|
||
Furcich J,
|
||
Lund TC,
|
||
You Y,
|
||
Seelig D,
|
||
Webber BR,
|
||
McIvor RS</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2023 Apr;138(4):107539.
|
||
Epub 2023 Feb 10
|
||
doi: 10.1016/j.ymgme.2023.107539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37023503" target="_blank">37023503</a><a href="/pmc/articles/PMC10705040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345092">Mucopolysaccharidosis type II, Hunter's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:107-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345092" target="_blank">25345092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21732093">Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke LA,
|
||
Hemmelgarn H,
|
||
Colobong K,
|
||
Thomas A,
|
||
Stockler S,
|
||
Casey R,
|
||
Chan A,
|
||
Fernoff P,
|
||
Mitchell J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Mar;35(2):355-62.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1007/s10545-011-9369-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21732093" target="_blank">21732093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18675343">Gene therapy of Hunter syndrome: evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friso A,
|
||
Tomanin R,
|
||
Zanetti A,
|
||
Mennuni C,
|
||
Calvaruso F,
|
||
La Monica N,
|
||
Marin O,
|
||
Zacchello F,
|
||
Scarpa M</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2008 Oct;1782(10):574-80.
|
||
Epub 2008 Jul 14
|
||
doi: 10.1016/j.bbadis.2008.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18675343" target="_blank">18675343</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (19)</a></div></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/26845288">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Feb 5;2(2):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26845288" target="_blank">26845288</a><a href="/pmc/articles/PMC7173756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24399699">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Jan 8;(1):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24399699" target="_blank">24399699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22071845">Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva EM,
|
||
Strufaldi MW,
|
||
Andriolo RB,
|
||
Silva LA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2011 Nov 9;(11):CD008185.
|
||
doi: 10.1002/14651858.CD008185.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22071845" target="_blank">22071845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20iduronate%20sulfatase%20level%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 (3)</a></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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