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<meta name="keywords" content="C0342907, congenital abnormality, macrothrombocytopenia/stomatocytosis, mediterranean, phytosterolemia, plant sterol storage disease, pseudohomozygous familial hypercholesterolemia, retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body, sitosterolemia, stsl, 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="Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=87466
|
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ConceptID=C0342907
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sitosterolemia<span class="h1sub">(STSL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87466</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:">C0342907</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PHYTOSTEROLEMIA; Plant sterol storage disease; Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body; STSL</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Sitosterolemia (238104009)</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>
|
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<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>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008863" target="_blank">MONDO:0008863</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/210250" target="_blank">210250</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS210250" target="_blank">PS210250</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=2882">ORPHA2882</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK131810" target="_blank">Sitosterolemia</a></div><div>Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK131810#stsl.Summary" target="NBK131810">Summary</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Diagnosis" target="NBK131810">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Clinical_Characteristics" target="NBK131810">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Genetically_Related_Allelic_Disorde" target="NBK131810">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Differential_Diagnosis" target="NBK131810">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Management" target="NBK131810">Management</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Genetic_Counseling" target="NBK131810">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Resources" target="NBK131810">Resources</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Molecular_Genetics" target="NBK131810">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.Chapter_Notes" target="NBK131810">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK131810#stsl.References" target="NBK131810">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Semone B Myrie | Robert D Steiner | David Mymin <a href="/books/NBK131810" target="NBK131810" title="NCBI Bookshelf: Sitosterolemia">view full author information</a></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. However, some people with sitosterolemia have normal cholesterol levels.<br /><br />Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia may begin to appear early in life after foods containing plant sterols are introduced into the diet, although some affected individuals have no obvious symptoms.<br /><br />In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death.<br /><br />Some people with sitosterolemia develop small yellowish growths called xanthomas beginning in childhood. Xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems.<br /><br />Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia). <a target="_blank" href="https://medlineplus.gov/genetics/condition/sitosterolemia">https://medlineplus.gov/genetics/condition/sitosterolemia</a></div></div>
|
||
</div>
|
||
|
||
<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><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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342907[DISCUI]&test_type=Clinical" ref="ncbi_uid=87466">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87466" target="_blank" href="/omim/210250">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK131810/" ref="ncbi_uid=87466">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87466" ref="ncbi_uid=87466">V</a></span></span><span class="TLline">Sitosterolemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/354119" ref="tree=MeSH" title="MedGen record for Rare Non-Neoplastic Disorder">Rare Non-Neoplastic Disorder</a></span><ul><li><span class="matched_ds">Sitosterolemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></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=765&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Sitosterolemia</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/34969652">Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Duan Y,
|
||
Zheng W,
|
||
Liang L,
|
||
Zhang H,
|
||
Luo X,
|
||
Gu X,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Jan-Feb;16(1):40-51.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.jacl.2021.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34969652" target="_blank">34969652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33907061">Diagnosis and Management of Sitosterolemia 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nomura A,
|
||
Ogura M,
|
||
Ikewaki K,
|
||
Ishigaki Y,
|
||
Inagaki K,
|
||
Tsukamoto K,
|
||
Dobashi K,
|
||
Nakamura K,
|
||
Hori M,
|
||
Matsuki K,
|
||
Yamashita S,
|
||
Yokoyama S,
|
||
Kawashiri MA,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Aug 1;28(8):791-801.
|
||
Epub 2021 Apr 28
|
||
doi: 10.5551/jat.RV17052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33907061" target="_blank">33907061</a><a href="/pmc/articles/PMC8326170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29984642">Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bastida JM,
|
||
Girós ML,
|
||
Benito R,
|
||
Janusz K,
|
||
Hernández-Rivas JM,
|
||
González-Porras JR</span><br />
|
||
<span class="medgenPMjournal">Curr Med Chem</span>
|
||
2019;26(37):6766-6775.
|
||
doi: 10.2174/0929867325666180705145900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29984642" target="_blank">29984642</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sitosterolemia%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 (12)</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/36597814">Xenosterolemia in clinical practice: what is in a name?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loh WJ,
|
||
Watts GF</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Apr 1;30(2):123-127.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1097/MED.0000000000000795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36597814" target="_blank">36597814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34969652">Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Duan Y,
|
||
Zheng W,
|
||
Liang L,
|
||
Zhang H,
|
||
Luo X,
|
||
Gu X,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Jan-Feb;16(1):40-51.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.jacl.2021.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34969652" target="_blank">34969652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31290811">Monogenic, polygenic, and oligogenic familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nohara A,
|
||
Kawashiri MA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Lipidol</span>
|
||
2019 Aug;30(4):300-306.
|
||
doi: 10.1097/QCO.0000000000000563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31290811" target="_blank">31290811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30388787">Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benito-Vicente A,
|
||
Uribe KB,
|
||
Jebari S,
|
||
Galicia-Garcia U,
|
||
Ostolaza H,
|
||
Martin C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2018 Nov 1;19(11)
|
||
doi: 10.3390/ijms19113426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30388787" target="_blank">30388787</a><a href="/pmc/articles/PMC6275065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16325823">Phytosterols and vascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel MD,
|
||
Thompson PD</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2006 May;186(1):12-9.
|
||
Epub 2005 Dec 2
|
||
doi: 10.1016/j.atherosclerosis.2005.10.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16325823" target="_blank">16325823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sitosterolemia%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 (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35963626">The Inherited Hypercholesterolemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loh WJ,
|
||
Watts GF</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2022 Sep;51(3):511-537.
|
||
Epub 2022 Jul 4
|
||
doi: 10.1016/j.ecl.2022.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35963626" target="_blank">35963626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33907061">Diagnosis and Management of Sitosterolemia 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nomura A,
|
||
Ogura M,
|
||
Ikewaki K,
|
||
Ishigaki Y,
|
||
Inagaki K,
|
||
Tsukamoto K,
|
||
Dobashi K,
|
||
Nakamura K,
|
||
Hori M,
|
||
Matsuki K,
|
||
Yamashita S,
|
||
Yokoyama S,
|
||
Kawashiri MA,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Aug 1;28(8):791-801.
|
||
Epub 2021 Apr 28
|
||
doi: 10.5551/jat.RV17052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33907061" target="_blank">33907061</a><a href="/pmc/articles/PMC8326170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31282987">Hereditary phytosterolaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harper K,
|
||
Bagot CN,
|
||
Leach M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(2):137.
|
||
Epub 2019 Jul 8
|
||
doi: 10.1111/bjh.16076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31282987" target="_blank">31282987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30388787">Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benito-Vicente A,
|
||
Uribe KB,
|
||
Jebari S,
|
||
Galicia-Garcia U,
|
||
Ostolaza H,
|
||
Martin C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2018 Nov 1;19(11)
|
||
doi: 10.3390/ijms19113426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30388787" target="_blank">30388787</a><a href="/pmc/articles/PMC6275065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26927922">Phytosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bain BJ,
|
||
Chakravorty S</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2016 Jun;91(6):643.
|
||
Epub 2016 Apr 24
|
||
doi: 10.1002/ajh.24343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26927922" target="_blank">26927922</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sitosterolemia%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 (106)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34969652">Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Duan Y,
|
||
Zheng W,
|
||
Liang L,
|
||
Zhang H,
|
||
Luo X,
|
||
Gu X,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Jan-Feb;16(1):40-51.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.jacl.2021.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34969652" target="_blank">34969652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33907061">Diagnosis and Management of Sitosterolemia 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nomura A,
|
||
Ogura M,
|
||
Ikewaki K,
|
||
Ishigaki Y,
|
||
Inagaki K,
|
||
Tsukamoto K,
|
||
Dobashi K,
|
||
Nakamura K,
|
||
Hori M,
|
||
Matsuki K,
|
||
Yamashita S,
|
||
Yokoyama S,
|
||
Kawashiri MA,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Aug 1;28(8):791-801.
|
||
Epub 2021 Apr 28
|
||
doi: 10.5551/jat.RV17052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33907061" target="_blank">33907061</a><a href="/pmc/articles/PMC8326170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31282987">Hereditary phytosterolaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harper K,
|
||
Bagot CN,
|
||
Leach M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(2):137.
|
||
Epub 2019 Jul 8
|
||
doi: 10.1111/bjh.16076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31282987" target="_blank">31282987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26927922">Phytosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bain BJ,
|
||
Chakravorty S</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2016 Jun;91(6):643.
|
||
Epub 2016 Apr 24
|
||
doi: 10.1002/ajh.24343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26927922" target="_blank">26927922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/781555">Beta-Sitosterolemia and xanthomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Nutr Rev</span>
|
||
1976 Jun;34(6):172-4.
|
||
doi: 10.1111/j.1753-4887.1976.tb05749.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/781555" target="_blank">781555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sitosterolemia%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 (162)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210074">Sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Kojima N,
|
||
Takamura M,
|
||
Kawashiri MA</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;110:145-169.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1016/bs.acc.2022.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210074" target="_blank">36210074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30305464">Postprandial Hyperlipemia is an Indication for Additional Risk in Sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito M,
|
||
Ikewaki K</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2018 Dec 1;25(12):1183-1184.
|
||
Epub 2018 Oct 11
|
||
doi: 10.5551/jat.ED104.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30305464" target="_blank">30305464</a><a href="/pmc/articles/PMC6249361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25073796">20-year-old amish woman with abdominal pain, retroperitoneal mass, and hyperlipidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz XD,
|
||
Levesque MC,
|
||
Modi SR,
|
||
Mock GD,
|
||
Liang KP</span><br />
|
||
<span class="medgenPMjournal">Arthritis Care Res (Hoboken)</span>
|
||
2015 Mar;67(3):447-51.
|
||
doi: 10.1002/acr.22425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25073796" target="_blank">25073796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16399487">Plasma sitosterol elevations are associated with an increased incidence of coronary events in men: results of a nested case-control analysis of the Prospective Cardiovascular Münster (PROCAM) study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assmann G,
|
||
Cullen P,
|
||
Erbey J,
|
||
Ramey DR,
|
||
Kannenberg F,
|
||
Schulte H</span><br />
|
||
<span class="medgenPMjournal">Nutr Metab Cardiovasc Dis</span>
|
||
2006 Jan;16(1):13-21.
|
||
Epub 2005 Jul 28
|
||
doi: 10.1016/j.numecd.2005.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16399487" target="_blank">16399487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16325823">Phytosterols and vascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel MD,
|
||
Thompson PD</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2006 May;186(1):12-9.
|
||
Epub 2005 Dec 2
|
||
doi: 10.1016/j.atherosclerosis.2005.10.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16325823" target="_blank">16325823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sitosterolemia%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36597814">Xenosterolemia in clinical practice: what is in a name?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loh WJ,
|
||
Watts GF</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Apr 1;30(2):123-127.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1097/MED.0000000000000795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36597814" target="_blank">36597814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35042526">Features of chinese patients with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
|
||
Su X,
|
||
Cai Y,
|
||
Ting TH,
|
||
Zhang W,
|
||
Lin Y,
|
||
Xu A,
|
||
Mao X,
|
||
Zeng C,
|
||
Liu L,
|
||
Li X</span><br />
|
||
<span class="medgenPMjournal">Lipids Health Dis</span>
|
||
2022 Jan 18;21(1):11.
|
||
doi: 10.1186/s12944-021-01619-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35042526" target="_blank">35042526</a><a href="/pmc/articles/PMC8764812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34969652">Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Duan Y,
|
||
Zheng W,
|
||
Liang L,
|
||
Zhang H,
|
||
Luo X,
|
||
Gu X,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Jan-Feb;16(1):40-51.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.jacl.2021.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34969652" target="_blank">34969652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33907061">Diagnosis and Management of Sitosterolemia 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nomura A,
|
||
Ogura M,
|
||
Ikewaki K,
|
||
Ishigaki Y,
|
||
Inagaki K,
|
||
Tsukamoto K,
|
||
Dobashi K,
|
||
Nakamura K,
|
||
Hori M,
|
||
Matsuki K,
|
||
Yamashita S,
|
||
Yokoyama S,
|
||
Kawashiri MA,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Aug 1;28(8):791-801.
|
||
Epub 2021 Apr 28
|
||
doi: 10.5551/jat.RV17052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33907061" target="_blank">33907061</a><a href="/pmc/articles/PMC8326170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31654053">ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zein AA,
|
||
Kaur R,
|
||
Hussein TOK,
|
||
Graf GA,
|
||
Lee JY</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2019 Oct 31;47(5):1259-1268.
|
||
doi: 10.1042/BST20190130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31654053" target="_blank">31654053</a><a href="/pmc/articles/PMC6824678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sitosterolemia%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 (48)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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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_content ln"><ul id="my-toc"></ul></div>
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C0342907%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342907%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342907%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342907%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342907%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342907%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0342907%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
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||
</ul></div>
|
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</div>
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||
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||
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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="https://www.omim.org/phenotypicSeries/PS210250" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2882" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sitosterolemia" 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=(%22sitosterolemia%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(%22Sitosterolemia%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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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Sitosterolemia/6620" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/sitosterolemia_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Sitosterolemia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/sitosterolemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7653/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/23556150" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Sitosterolemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Sitosterolemia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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</li>
|
||
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|
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
|
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=87466" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0342907[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0342907[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=87466" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
|
||
<li class="brieflinkpopper">
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