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<meta name="keywords" content="C0026706, disease or syndrome, heparan sulfate sulfatase deficiency, heparan sulphate sulfatase deficiency, mps3, mpsiii, mucopoly-saccharidosis type 3, mucopolysaccharidosis 3, mucopolysaccharidosis iii, mucopolysaccharidosis iiis, mucopolysaccharidosis type 3, mucopolysaccharidosis type iii, mucopolysaccharidosis, mps-iii, n-sulphoglucosamine sulphohydrolase deficiency, oligophrenia, polydystrophic, oligophrenias, polydystrophic, polydystrophic oligophrenia, polydystrophic oligophrenias, san filippo syndrome, san filippo's syndrome, san filippos syndrome, sanfilippo disease, sanfilippo syndrome, sanfilippo syndromes, sanfilippo's syndrome, sanfilippos syndrome, syndrome, san filippo's, syndrome, sanfilippo, syndrome, sanfilippo's, syndromes, sanfilippo, 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="Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=6452
|
||
ConceptID=C0026706
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sanfilippo syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6452</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:">C0026706</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Mucopoly-saccharidosis type 3; Mucopolysaccharidosis type 3; Mucopolysaccharidosis Type III; Sanfilippo disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Sanfilippo disease (88393000); Mucopolysaccharidosis type III (88393000); Sanfilippo syndrome (88393000); Mucopolysaccharidosis, MPS-III (88393000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/138050">HGSNAT</a>, <a target="_blank" href="/gene/6448">SGSH</a>, <a target="_blank" href="/gene/4669">NAGLU</a>, <a target="_blank" href="/gene/2799">GNS</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018937" target="_blank">MONDO:0018937</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=581">ORPHA581</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0026706[DISCUI]&test_type=Clinical" ref="ncbi_uid=6452">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6452" ref="ncbi_uid=6452">V</a></span></span><span class="TLline">Sanfilippo syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0086647[DISCUI]&test_type=Clinical" ref="ncbi_uid=39264">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=39264" target="_blank" href="/omim/252900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546574/" ref="ncbi_uid=39264">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39264" ref="ncbi_uid=39264">V</a></span></span><span class="TLline"><a href="/medgen/39264" ref="tree=GTR&ncbi_uid=39264&link_uid=39264" title="View MedGen record for 'Mucopolysaccharidosis, MPS-III-A'">Mucopolysaccharidosis, MPS-III-A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0086648[DISCUI]&test_type=Clinical" ref="ncbi_uid=88601">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88601" target="_blank" href="/omim/252920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546574/" ref="ncbi_uid=88601">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88601" ref="ncbi_uid=88601">V</a></span></span><span class="TLline"><a href="/medgen/88601" ref="tree=GTR&ncbi_uid=88601&link_uid=88601" title="View MedGen record for 'Mucopolysaccharidosis, MPS-III-B'">Mucopolysaccharidosis, MPS-III-B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0086649[DISCUI]&test_type=Clinical" ref="ncbi_uid=39477">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=39477" target="_blank" href="/omim/252930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546574/" ref="ncbi_uid=39477">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39477" ref="ncbi_uid=39477">V</a></span></span><span class="TLline"><a href="/medgen/39477" ref="tree=GTR&ncbi_uid=39477&link_uid=39477" title="View MedGen record for 'Mucopolysaccharidosis, MPS-III-C'">Mucopolysaccharidosis, MPS-III-C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0086650[DISCUI]&test_type=Clinical" ref="ncbi_uid=88602">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88602" target="_blank" href="/omim/252940">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546574/" ref="ncbi_uid=88602">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88602" ref="ncbi_uid=88602">V</a></span></span><span class="TLline"><a href="/medgen/88602" ref="tree=GTR&ncbi_uid=88602&link_uid=88602" title="View MedGen record for 'Mucopolysaccharidosis, MPS-III-D'">Mucopolysaccharidosis, MPS-III-D</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842692" ref="tree=MeSH" title="MedGen record for Lysosomal disease with epilepsy">Lysosomal disease with epilepsy</a></span><ul><li><span class="matched_ds">Sanfilippo syndrome</span><ul><li><span class="TLline"><a href="/medgen/39264" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-A">Mucopolysaccharidosis, MPS-III-A</a></span></li><li><span class="TLline"><a href="/medgen/88601" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-B">Mucopolysaccharidosis, MPS-III-B</a></span></li><li><span class="TLline"><a href="/medgen/39477" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-C">Mucopolysaccharidosis, MPS-III-C</a></span></li><li><span class="TLline"><a href="/medgen/88602" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-D">Mucopolysaccharidosis, MPS-III-D</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36696678">N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Pasquale V,
|
||
Esposito A,
|
||
Scerra G,
|
||
Scarcella M,
|
||
Ciampa M,
|
||
Luongo A,
|
||
D'Alonzo D,
|
||
Guaragna A,
|
||
D'Agostino M,
|
||
Pavone LM</span><br />
|
||
<span class="medgenPMjournal">J Med Chem</span>
|
||
2023 Feb 9;66(3):1790-1808.
|
||
Epub 2023 Jan 25
|
||
doi: 10.1021/acs.jmedchem.2c01617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36696678" target="_blank">36696678</a><a href="/pmc/articles/PMC9923752" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36303195">Sanfilippo syndrome: consensus guidelines for clinical care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muschol N,
|
||
Giugliani R,
|
||
Jones SA,
|
||
Muenzer J,
|
||
Smith NJC,
|
||
Whitley CB,
|
||
Donnell M,
|
||
Drake E,
|
||
Elvidge K,
|
||
Melton L,
|
||
O'Neill C;
|
||
MPS III Guideline Development Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 27;17(1):391.
|
||
doi: 10.1186/s13023-022-02484-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36303195" target="_blank">36303195</a><a href="/pmc/articles/PMC9612603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32949598">Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong W,
|
||
Yao Y,
|
||
Zhang J,
|
||
Lu C,
|
||
Ding Y,
|
||
Meng Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Pharmacol</span>
|
||
2020 Dec 5;888:173562.
|
||
Epub 2020 Sep 16
|
||
doi: 10.1016/j.ejphar.2020.173562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32949598" target="_blank">32949598</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sanfilippo%20syndrome%22%5Btiab%3A~0%5D)%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 (18)</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/38918376">Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao B,
|
||
Cao Z,
|
||
Zheng Y,
|
||
Nguyen P,
|
||
Bowen A,
|
||
Edwards RH,
|
||
Stroud RM,
|
||
Zhou Y,
|
||
Van Lookeren Campagne M,
|
||
Li F</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jun 25;15(1):5388.
|
||
doi: 10.1038/s41467-024-49614-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38918376" target="_blank">38918376</a><a href="/pmc/articles/PMC11199644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37592806">Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Palma MM,
|
||
Marra M,
|
||
Igelman AD,
|
||
Ku CA,
|
||
Burr A,
|
||
Andersen K,
|
||
Everett LA,
|
||
Porto FBO,
|
||
Sallum JMF,
|
||
Yang P,
|
||
Pennesi ME</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2024 Apr;45(2):167-174.
|
||
Epub 2023 Aug 17
|
||
doi: 10.1080/13816810.2023.2245035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37592806" target="_blank">37592806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36303195">Sanfilippo syndrome: consensus guidelines for clinical care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muschol N,
|
||
Giugliani R,
|
||
Jones SA,
|
||
Muenzer J,
|
||
Smith NJC,
|
||
Whitley CB,
|
||
Donnell M,
|
||
Drake E,
|
||
Elvidge K,
|
||
Melton L,
|
||
O'Neill C;
|
||
MPS III Guideline Development Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 27;17(1):391.
|
||
doi: 10.1186/s13023-022-02484-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36303195" target="_blank">36303195</a><a href="/pmc/articles/PMC9612603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27384562">Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coutinho MF,
|
||
Santos JI,
|
||
Alves S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2016 Jul 4;17(7)
|
||
doi: 10.3390/ijms17071065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27384562" target="_blank">27384562</a><a href="/pmc/articles/PMC4964441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345095">Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilkes JA,
|
||
Heldermon CD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:133-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345095" target="_blank">25345095</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (97)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36303195">Sanfilippo syndrome: consensus guidelines for clinical care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muschol N,
|
||
Giugliani R,
|
||
Jones SA,
|
||
Muenzer J,
|
||
Smith NJC,
|
||
Whitley CB,
|
||
Donnell M,
|
||
Drake E,
|
||
Elvidge K,
|
||
Melton L,
|
||
O'Neill C;
|
||
MPS III Guideline Development Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 27;17(1):391.
|
||
doi: 10.1186/s13023-022-02484-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36303195" target="_blank">36303195</a><a href="/pmc/articles/PMC9612603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35291973">A case report of Sanfilippo syndrome - the long way to diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz D,
|
||
Musacchio T,
|
||
Kunstmann E,
|
||
Grauer E,
|
||
Pluta N,
|
||
Stock A,
|
||
Speer CP,
|
||
Hebestreit H</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 Mar 15;22(1):93.
|
||
doi: 10.1186/s12883-022-02611-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35291973" target="_blank">35291973</a><a href="/pmc/articles/PMC8922843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25851924">Sanfilippo syndrome: Overall review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade F,
|
||
Aldámiz-Echevarría L,
|
||
Llarena M,
|
||
Couce ML</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Jun;57(3):331-8.
|
||
doi: 10.1111/ped.12636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25851924" target="_blank">25851924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23336697">Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wijburg FA,
|
||
Węgrzyn G,
|
||
Burton BK,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2013 May;102(5):462-70.
|
||
Epub 2013 Feb 6
|
||
doi: 10.1111/apa.12169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23336697" target="_blank">23336697</a><a href="/pmc/articles/PMC3654162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10224661">Sulphamidase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anson DS,
|
||
Bielicki J</span><br />
|
||
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
|
||
1999 Mar-Apr;31(3-4):363-7.
|
||
doi: 10.1016/s1357-2725(98)00148-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10224661" target="_blank">10224661</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (109)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38907160">Anakinra in Sanfilippo syndrome: a phase 1/2 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polgreen LE,
|
||
Chen AH,
|
||
Pak Y,
|
||
Luzzi A,
|
||
Morales Garval A,
|
||
Acevedo J,
|
||
Bitan G,
|
||
Iacovino M,
|
||
O'Neill C,
|
||
Eisengart JB</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2024 Sep;30(9):2473-2479.
|
||
Epub 2024 Jun 21
|
||
doi: 10.1038/s41591-024-03079-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38907160" target="_blank">38907160</a><a href="/pmc/articles/PMC11405265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36413418">A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muschol N,
|
||
Koehn A,
|
||
von Cossel K,
|
||
Okur I,
|
||
Ezgu F,
|
||
Harmatz P,
|
||
de Castro Lopez MJ,
|
||
Couce ML,
|
||
Lin SP,
|
||
Batzios S,
|
||
Cleary M,
|
||
Solano M,
|
||
Nestrasil I,
|
||
Kaufman B,
|
||
Shaywitz AJ,
|
||
Maricich SM,
|
||
Kuca B,
|
||
Kovalchin J,
|
||
Zanelli E</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2023 Jan 17;133(2)
|
||
doi: 10.1172/JCI165076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36413418" target="_blank">36413418</a><a href="/pmc/articles/PMC9843052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30006231">Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yi F,
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Hong X,
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Boons GJ,
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2018 Sep;125(1-2):59-63.
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<div class="nl"><a target="_blank" href="/pubmed/28660346">Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lau AA,
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<div class="nl"><a target="_blank" href="/pubmed/27832416">Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">King B,
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Marshall NR,
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Hassiotis S,
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Trim PJ,
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Tucker J,
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Hattersley K,
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Snel MF,
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Jolly RD,
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Hopwood JJ,
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Hemsley KM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27832416" target="_blank">27832416</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37357981">Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Winner LK,
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Hemsley KM</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/35291973">A case report of Sanfilippo syndrome - the long way to diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz D,
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<div class="nl"><a target="_blank" href="/pubmed/31342580">Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Clark WT,
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Kasak L,
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Bakolitsa C,
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Hu Z,
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Andreoletti G,
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Dunbrack R,
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Folkman L,
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Lichtarge O,
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Martelli PL,
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Nodzak C,
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Pal LR,
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Radivojac P,
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Savojardo C,
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Shi X,
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Zhou Y,
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Uppal A,
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Pejaver V,
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2019 Sep;40(9):1519-1529.
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<span class="bold">PMID: </span><a href="/pubmed/31342580" target="_blank">31342580</a><a href="/pmc/articles/PMC7156275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27100513">Glycosaminoglycans and mucopolysaccharidosis type III.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jakobkiewicz-Banecka J,
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Gabig-Ciminska M,
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Kloska A,
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Malinowska M,
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Piotrowska E,
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Banecka-Majkutewicz Z,
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Banecki B,
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Wegrzyn A,
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Wegrzyn G</span><br />
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2016 Jun 1;21(7):1393-409.
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<span class="bold">PMID: </span><a href="/pubmed/27100513" target="_blank">27100513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20852935">Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valstar MJ,
|
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Bruggenwirth HT,
|
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Olmer R,
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Wevers RA,
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Verheijen FW,
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Poorthuis BJ,
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Halley DJ,
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Wijburg FA</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2010 Dec;33(6):759-67.
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Epub 2010 Sep 18
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<span class="bold">PMID: </span><a href="/pubmed/20852935" target="_blank">20852935</a><a href="/pmc/articles/PMC2992652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (54)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37592806">Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">da Palma MM,
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Marra M,
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Igelman AD,
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Ku CA,
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Burr A,
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Everett LA,
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Porto FBO,
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Sallum JMF,
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Yang P,
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Pennesi ME</span><br />
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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||
2024 Apr;45(2):167-174.
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||
Epub 2023 Aug 17
|
||
doi: 10.1080/13816810.2023.2245035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37592806" target="_blank">37592806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828533">Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deltuvaite-Thomas V,
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De Backer M,
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Parker S,
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Deneux M,
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Polgreen LE,
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O'Neill C,
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Salvaggio S,
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2023 Oct 12;18(1):321.
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doi: 10.1186/s13023-023-02943-8.
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<span class="bold">PMID: </span><a href="/pubmed/37828533" target="_blank">37828533</a><a href="/pmc/articles/PMC10571482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36064607">Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Różdżyńska-Świątkowska A,
|
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Zielińska A,
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Tylki-Szymańska A</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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||
2022 Sep 5;17(1):339.
|
||
doi: 10.1186/s13023-022-02486-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36064607" target="_blank">36064607</a><a href="/pmc/articles/PMC9446781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27832416">Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">King B,
|
||
Marshall NR,
|
||
Hassiotis S,
|
||
Trim PJ,
|
||
Tucker J,
|
||
Hattersley K,
|
||
Snel MF,
|
||
Jolly RD,
|
||
Hopwood JJ,
|
||
Hemsley KM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 May;40(3):443-453.
|
||
Epub 2016 Nov 10
|
||
doi: 10.1007/s10545-016-9994-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27832416" target="_blank">27832416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27100513">Glycosaminoglycans and mucopolysaccharidosis type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jakobkiewicz-Banecka J,
|
||
Gabig-Ciminska M,
|
||
Kloska A,
|
||
Malinowska M,
|
||
Piotrowska E,
|
||
Banecka-Majkutewicz Z,
|
||
Banecki B,
|
||
Wegrzyn A,
|
||
Wegrzyn G</span><br />
|
||
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
|
||
2016 Jun 1;21(7):1393-409.
|
||
doi: 10.2741/4463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27100513" target="_blank">27100513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (86)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/34271605">Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong W,
|
||
Wu S,
|
||
Zhang J,
|
||
Lu C,
|
||
Ding Y,
|
||
Meng Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Oct 26;34(10):1225-1235.
|
||
Epub 2021 Jul 19
|
||
doi: 10.1515/jpem-2020-0742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34271605" target="_blank">34271605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29631636">Epidemiology of Sanfilippo syndrome: results of a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zelei T,
|
||
Csetneki K,
|
||
Vokó Z,
|
||
Siffel C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Apr 10;13(1):53.
|
||
doi: 10.1186/s13023-018-0796-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29631636" target="_blank">29631636</a><a href="/pmc/articles/PMC5891921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28856504">Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfenden C,
|
||
Wittkowski A,
|
||
Hare DJ</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2017 Nov;47(11):3620-3633.
|
||
doi: 10.1007/s10803-017-3262-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28856504" target="_blank">28856504</a><a href="/pmc/articles/PMC5633638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sanfilippo%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026706%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0026706%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
|
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</ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=581" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sanfilippo%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sanfilippo%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Sanfilippo%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5ee0f4a390645e7a2727">Sanfilippo syndrome</a>
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<div class="ralinkpop offscreen_noflow">C1849437[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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