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<meta name="keywords" content="C1855923, disease or syndrome, hpmr, hyperphosphatasemia with intellectual disability, hyperphosphatasemia with mental retardation, hyperphosphatasia with intellectual disability syndrome, hyperphosphatasia with mental retardation, hyperphosphatasia with mental retardation syndrome, hyperphosphatasia with seizures and neurologic deficit, hyperphosphatasia-intellectual disability syndrome, mabry syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.\n\nPeople with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.\n\nIndividuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time.\n\nHyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome.\n\nThe signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.\n\nAnother common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=383800
|
||
ConceptID=C1855923
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperphosphatasia-intellectual disability syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383800</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.">C1855923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hyperphosphatasia with mental retardation syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperphosphatasia with seizures and neurologic deficit (33982008); Mabry syndrome (33982008); Hyperphosphatasemia with intellectual disability (33982008); Hyperphosphatasemia with mental retardation (33982008)</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/284098">PIGW</a>, <a target="_blank" href="/gene/93210">PGAP3</a>, <a target="_blank" href="/gene/84992">PIGY</a>, <a target="_blank" href="/gene/84720">PIGO</a>, <a target="_blank" href="/gene/55650">PIGV</a>, <a target="_blank" href="/gene/27315">PGAP2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016596" target="_blank">MONDO:0016596</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS239300" target="_blank">PS239300</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=247262">ORPHA247262</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.<br /><br />People with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.<br /><br />Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time.<br /><br />Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome.<br /><br />The signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.<br /><br />Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C1855923[DISCUI]&test_type=Clinical" ref="ncbi_uid=383800">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=383800" ref="ncbi_uid=383800">V</a></span></span><span class="TLline">Hyperphosphatasia-intellectual disability 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=C4551502[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647044">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647044" target="_blank" href="/omim/239300">O</a></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=1647044" ref="ncbi_uid=1647044">V</a></span></span><span class="TLline"><a href="/medgen/1647044" ref="tree=GTR&ncbi_uid=1647044&link_uid=1647044" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 1'">Hyperphosphatasia with intellectual disability syndrome 1</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=C3553637[DISCUI]&test_type=Clinical" ref="ncbi_uid=766551">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766551" target="_blank" href="/omim/614730">O</a></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=766551" ref="ncbi_uid=766551">V</a></span></span><span class="TLline"><a href="/medgen/766551" ref="tree=GTR&ncbi_uid=766551&link_uid=766551" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 2'">Hyperphosphatasia with intellectual disability syndrome 2</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=C3280153[DISCUI]&test_type=Clinical" ref="ncbi_uid=481783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481783" target="_blank" href="/omim/614207">O</a></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=481783" ref="ncbi_uid=481783">V</a></span></span><span class="TLline"><a href="/medgen/481783" ref="tree=GTR&ncbi_uid=481783&link_uid=481783" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 3'">Hyperphosphatasia with intellectual disability syndrome 3</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=C3810354[DISCUI]&test_type=Clinical" ref="ncbi_uid=816684">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816684" target="_blank" href="/omim/611801">O</a></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=816684" ref="ncbi_uid=816684">V</a></span></span><span class="TLline"><a href="/medgen/816684" ref="tree=GTR&ncbi_uid=816684&link_uid=816684" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 4'">Hyperphosphatasia with intellectual disability syndrome 4</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=C4014958[DISCUI]&test_type=Clinical" ref="ncbi_uid=863395">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863395" target="_blank" href="/omim/610275">O</a></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=863395" ref="ncbi_uid=863395">V</a></span></span><span class="TLline"><a href="/medgen/863395" ref="tree=GTR&ncbi_uid=863395&link_uid=863395" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 5'">Hyperphosphatasia with intellectual disability syndrome 5</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=C4225201[DISCUI]&test_type=Clinical" ref="ncbi_uid=906509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=906509" target="_blank" href="/omim/610662">O</a></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=906509" ref="ncbi_uid=906509">V</a></span></span><span class="TLline"><a href="/medgen/906509" ref="tree=GTR&ncbi_uid=906509&link_uid=906509" title="View MedGen record for 'Hyperphosphatasia with intellectual disability syndrome 6'">Hyperphosphatasia with intellectual disability syndrome 6</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/1842242" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation-related bone disorder">Congenital disorder of glycosylation-related bone disorder</a></span><ul><li><span class="matched_ds">Hyperphosphatasia-intellectual disability syndrome</span><ul><li><span class="TLline"><a href="/medgen/1647044" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 1">Hyperphosphatasia with intellectual disability syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766551" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 2">Hyperphosphatasia with intellectual disability syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/481783" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 3">Hyperphosphatasia with intellectual disability syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/816684" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 4">Hyperphosphatasia with intellectual disability syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/863395" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 5">Hyperphosphatasia with intellectual disability syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/906509" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 6">Hyperphosphatasia with intellectual disability syndrome 6</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/36261251">Diagnosis, prevention and treatment of common shoulder injuries in sport: grading the evidence - a statement paper commissioned by the Danish Society of Sports Physical Therapy (DSSF).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liaghat B,
|
||
Pedersen JR,
|
||
Husted RS,
|
||
Pedersen LL,
|
||
Thorborg K,
|
||
Juhl CB</span><br />
|
||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2023 Apr;57(7):408-416.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1136/bjsports-2022-105674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36261251" target="_blank">36261251</a><a href="/pmc/articles/PMC10086287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33620411">Diagnosis and Treatment of Multiple Sclerosis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGinley MP,
|
||
Goldschmidt CH,
|
||
Rae-Grant AD</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2021 Feb 23;325(8):765-779.
|
||
doi: 10.1001/jama.2020.26858.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33620411" target="_blank">33620411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24482784">Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffman E,
|
||
Ohrbach R,
|
||
Truelove E,
|
||
Look J,
|
||
Anderson G,
|
||
Goulet JP,
|
||
List T,
|
||
Svensson P,
|
||
Gonzalez Y,
|
||
Lobbezoo F,
|
||
Michelotti A,
|
||
Brooks SL,
|
||
Ceusters W,
|
||
Drangsholt M,
|
||
Ettlin D,
|
||
Gaul C,
|
||
Goldberg LJ,
|
||
Haythornthwaite JA,
|
||
Hollender L,
|
||
Jensen R,
|
||
John MT,
|
||
De Laat A,
|
||
de Leeuw R,
|
||
Maixner W,
|
||
van der Meulen M,
|
||
Murray GM,
|
||
Nixdorf DR,
|
||
Palla S,
|
||
Petersson A,
|
||
Pionchon P,
|
||
Smith B,
|
||
Visscher CM,
|
||
Zakrzewska J,
|
||
Dworkin SF;
|
||
International RDC/TMD Consortium Network, International association for Dental Research;
|
||
Orofacial Pain Special Interest Group, International Association for the Study of Pain</span><br />
|
||
<span class="medgenPMjournal">J Oral Facial Pain Headache</span>
|
||
2014 Winter;28(1):6-27.
|
||
doi: 10.11607/jop.1151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24482784" target="_blank">24482784</a><a href="/pmc/articles/PMC4478082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyperphosphatasia-intellectual%20disability%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2105)</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/36650605">The Effectiveness of Rehabilitation Interventions on Pain and Disability for Complex Regional Pain Syndrome: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shafiee E,
|
||
MacDermid J,
|
||
Packham T,
|
||
Walton D,
|
||
Grewal R,
|
||
Farzad M</span><br />
|
||
<span class="medgenPMjournal">Clin J Pain</span>
|
||
2023 Feb 1;39(2):91-105.
|
||
doi: 10.1097/AJP.0000000000001089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36650605" target="_blank">36650605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33587574">Frailty: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allison R 2nd,
|
||
Assadzandi S,
|
||
Adelman M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2021 Feb 15;103(4):219-226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33587574" target="_blank">33587574</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26669211">Care of Adults With Intellectual and Developmental Disabilities: Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson B,
|
||
Jones KB,
|
||
Weedon D,
|
||
Bilder D</span><br />
|
||
<span class="medgenPMjournal">FP Essent</span>
|
||
2015 Dec;439:20-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26669211" target="_blank">26669211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24154642">Cognitive frailty: rational and definition from an (I.A.N.A./I.A.G.G.) international consensus group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelaiditi E,
|
||
Cesari M,
|
||
Canevelli M,
|
||
van Kan GA,
|
||
Ousset PJ,
|
||
Gillette-Guyonnet S,
|
||
Ritz P,
|
||
Duveau F,
|
||
Soto ME,
|
||
Provencher V,
|
||
Nourhashemi F,
|
||
Salvà A,
|
||
Robert P,
|
||
Andrieu S,
|
||
Rolland Y,
|
||
Touchon J,
|
||
Fitten JL,
|
||
Vellas B;
|
||
IANA/IAGG</span><br />
|
||
<span class="medgenPMjournal">J Nutr Health Aging</span>
|
||
2013 Sep;17(9):726-34.
|
||
doi: 10.1007/s12603-013-0367-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24154642" target="_blank">24154642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20500706">Oral health of patients with intellectual disabilities: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anders PL,
|
||
Davis EL</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 May-Jun;30(3):110-7.
|
||
doi: 10.1111/j.1754-4505.2010.00136.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20500706" target="_blank">20500706</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (16088)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33587574">Frailty: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allison R 2nd,
|
||
Assadzandi S,
|
||
Adelman M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2021 Feb 15;103(4):219-226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33587574" target="_blank">33587574</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656104">The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christopher A,
|
||
Kraft E,
|
||
Olenick H,
|
||
Kiesling R,
|
||
Doty A</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2021 Jun;43(13):1799-1813.
|
||
Epub 2019 Oct 26
|
||
doi: 10.1080/09638288.2019.1682066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656104" target="_blank">31656104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32356135">Approaches to the diagnosis and prevention of frailty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woolford SJ,
|
||
Sohan O,
|
||
Dennison EM,
|
||
Cooper C,
|
||
Patel HP</span><br />
|
||
<span class="medgenPMjournal">Aging Clin Exp Res</span>
|
||
2020 Sep;32(9):1629-1637.
|
||
Epub 2020 Apr 30
|
||
doi: 10.1007/s40520-020-01559-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32356135" target="_blank">32356135</a><a href="/pmc/articles/PMC7508740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32160166">Idiopathic Normal Pressure Hydrocephalus (Hakim-Adams Syndrome): Clinical Symptoms, Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavrilov GV,
|
||
Gaydar BV,
|
||
Svistov DV,
|
||
Korovin AE,
|
||
Samarcev IN,
|
||
Churilov LP,
|
||
Tovpeko DV</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Danub</span>
|
||
2019 Dec;31(Suppl 5):737-744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32160166" target="_blank">32160166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30586067">Chronic pain as a symptom or a disease: the IASP Classification of Chronic Pain for the International Classification of Diseases (ICD-11).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Treede RD,
|
||
Rief W,
|
||
Barke A,
|
||
Aziz Q,
|
||
Bennett MI,
|
||
Benoliel R,
|
||
Cohen M,
|
||
Evers S,
|
||
Finnerup NB,
|
||
First MB,
|
||
Giamberardino MA,
|
||
Kaasa S,
|
||
Korwisi B,
|
||
Kosek E,
|
||
Lavand'homme P,
|
||
Nicholas M,
|
||
Perrot S,
|
||
Scholz J,
|
||
Schug S,
|
||
Smith BH,
|
||
Svensson P,
|
||
Vlaeyen JWS,
|
||
Wang SJ</span><br />
|
||
<span class="medgenPMjournal">Pain</span>
|
||
2019 Jan;160(1):19-27.
|
||
doi: 10.1097/j.pain.0000000000001384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30586067" target="_blank">30586067</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (17683)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36650605">The Effectiveness of Rehabilitation Interventions on Pain and Disability for Complex Regional Pain Syndrome: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shafiee E,
|
||
MacDermid J,
|
||
Packham T,
|
||
Walton D,
|
||
Grewal R,
|
||
Farzad M</span><br />
|
||
<span class="medgenPMjournal">Clin J Pain</span>
|
||
2023 Feb 1;39(2):91-105.
|
||
doi: 10.1097/AJP.0000000000001089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36650605" target="_blank">36650605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33567916">The efficacy of rehabilitation in people with Guillain-Barrè syndrome: a systematic review of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sulli S,
|
||
Scala L,
|
||
Berardi A,
|
||
Conte A,
|
||
Baione V,
|
||
Belvisi D,
|
||
Leodori G,
|
||
Galeoto G</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Apr;21(4):455-461.
|
||
Epub 2021 Feb 23
|
||
doi: 10.1080/14737175.2021.1890034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33567916" target="_blank">33567916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26905470">Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smart KM,
|
||
Wand BM,
|
||
O'Connell NE</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Feb 24;2(2):CD010853.
|
||
doi: 10.1002/14651858.CD010853.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26905470" target="_blank">26905470</a><a href="/pmc/articles/PMC8646955" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23633371">Interventions for treating pain and disability in adults with complex regional pain syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connell NE,
|
||
Wand BM,
|
||
McAuley J,
|
||
Marston L,
|
||
Moseley GL</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Apr 30;2013(4):CD009416.
|
||
doi: 10.1002/14651858.CD009416.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23633371" target="_blank">23633371</a><a href="/pmc/articles/PMC6469537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9255132">Stroke syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumlin KM,
|
||
Richardson LD</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
1997 Aug;15(3):551-61.
|
||
doi: 10.1016/s0733-8627(05)70317-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9255132" target="_blank">9255132</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (6961)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656104">The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christopher A,
|
||
Kraft E,
|
||
Olenick H,
|
||
Kiesling R,
|
||
Doty A</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2021 Jun;43(13):1799-1813.
|
||
Epub 2019 Oct 26
|
||
doi: 10.1080/09638288.2019.1682066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656104" target="_blank">31656104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32531727">Dental health in persons with disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
|
||
Boyce D,
|
||
Robbins M,
|
||
Pressler M</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Sep;110:107174.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1016/j.yebeh.2020.107174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32531727" target="_blank">32531727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23633371">Interventions for treating pain and disability in adults with complex regional pain syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connell NE,
|
||
Wand BM,
|
||
McAuley J,
|
||
Marston L,
|
||
Moseley GL</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Apr 30;2013(4):CD009416.
|
||
doi: 10.1002/14651858.CD009416.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23633371" target="_blank">23633371</a><a href="/pmc/articles/PMC6469537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11253156">Frailty in older adults: evidence for a phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fried LP,
|
||
Tangen CM,
|
||
Walston J,
|
||
Newman AB,
|
||
Hirsch C,
|
||
Gottdiener J,
|
||
Seeman T,
|
||
Tracy R,
|
||
Kop WJ,
|
||
Burke G,
|
||
McBurnie MA;
|
||
Cardiovascular Health Study Collaborative Research Group</span><br />
|
||
<span class="medgenPMjournal">J Gerontol A Biol Sci Med Sci</span>
|
||
2001 Mar;56(3):M146-56.
|
||
doi: 10.1093/gerona/56.3.m146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11253156" target="_blank">11253156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8632051">Recognizing post-polio syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartfeld H,
|
||
Ma D</span><br />
|
||
<span class="medgenPMjournal">Hosp Pract (1995)</span>
|
||
1996 May 15;31(5):95-7, 101-3, 107 passim.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8632051" target="_blank">8632051</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (8140)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Jimeno C,
|
||
Blanco-Kelly F,
|
||
López-Grondona F,
|
||
Losada-Del Pozo R,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Martinez-Cayuelas E,
|
||
Riveiro-Alvarez R,
|
||
Fenollar-Cortés M,
|
||
Ayuso C,
|
||
Rodríguez de Alba M,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 30;12(9)
|
||
doi: 10.3390/genes12091360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573342" target="_blank">34573342</a><a href="/pmc/articles/PMC8471078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656104">The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christopher A,
|
||
Kraft E,
|
||
Olenick H,
|
||
Kiesling R,
|
||
Doty A</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2021 Jun;43(13):1799-1813.
|
||
Epub 2019 Oct 26
|
||
doi: 10.1080/09638288.2019.1682066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656104" target="_blank">31656104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27125943">The relationship between nutrition and frailty: Effects of protein intake, nutritional supplementation, vitamin D and exercise on muscle metabolism in the elderly. A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Artaza-Artabe I,
|
||
Sáez-López P,
|
||
Sánchez-Hernández N,
|
||
Fernández-Gutierrez N,
|
||
Malafarina V</span><br />
|
||
<span class="medgenPMjournal">Maturitas</span>
|
||
2016 Nov;93:89-99.
|
||
Epub 2016 Apr 14
|
||
doi: 10.1016/j.maturitas.2016.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27125943" target="_blank">27125943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21470008">Functional disability 5 years after acute respiratory distress syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herridge MS,
|
||
Tansey CM,
|
||
Matté A,
|
||
Tomlinson G,
|
||
Diaz-Granados N,
|
||
Cooper A,
|
||
Guest CB,
|
||
Mazer CD,
|
||
Mehta S,
|
||
Stewart TE,
|
||
Kudlow P,
|
||
Cook D,
|
||
Slutsky AS,
|
||
Cheung AM;
|
||
Canadian Critical Care Trials Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2011 Apr 7;364(14):1293-304.
|
||
doi: 10.1056/NEJMoa1011802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21470008" target="_blank">21470008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11253156">Frailty in older adults: evidence for a phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fried LP,
|
||
Tangen CM,
|
||
Walston J,
|
||
Newman AB,
|
||
Hirsch C,
|
||
Gottdiener J,
|
||
Seeman T,
|
||
Tracy R,
|
||
Kop WJ,
|
||
Burke G,
|
||
McBurnie MA;
|
||
Cardiovascular Health Study Collaborative Research Group</span><br />
|
||
<span class="medgenPMjournal">J Gerontol A Biol Sci Med Sci</span>
|
||
2001 Mar;56(3):M146-56.
|
||
doi: 10.1093/gerona/56.3.m146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11253156" target="_blank">11253156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (11659)</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/36729570">mHealth Intervention for Improving Pain, Quality of Life, and Functional Disability in Patients With Chronic Pain: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno-Ligero M,
|
||
Moral-Munoz JA,
|
||
Salazar A,
|
||
Failde I</span><br />
|
||
<span class="medgenPMjournal">JMIR Mhealth Uhealth</span>
|
||
2023 Feb 2;11:e40844.
|
||
doi: 10.2196/40844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729570" target="_blank">36729570</a><a href="/pmc/articles/PMC9936365" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36011540">Efficacy of Dry Needling and Acupuncture in Patients with Fibromyalgia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valera-Calero JA,
|
||
Fernández-de-Las-Peñas C,
|
||
Navarro-Santana MJ,
|
||
Plaza-Manzano G</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Aug 11;19(16)
|
||
doi: 10.3390/ijerph19169904.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36011540" target="_blank">36011540</a><a href="/pmc/articles/PMC9408486" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35579382">Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smart KM,
|
||
Ferraro MC,
|
||
Wand BM,
|
||
O'Connell NE</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 17;5(5):CD010853.
|
||
doi: 10.1002/14651858.CD010853.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35579382" target="_blank">35579382</a><a href="/pmc/articles/PMC9112661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32962567">Comparison of dry needling and trigger point manual therapy in patients with neck and upper back myofascial pain syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lew J,
|
||
Kim J,
|
||
Nair P</span><br />
|
||
<span class="medgenPMjournal">J Man Manip Ther</span>
|
||
2021 Jun;29(3):136-146.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1080/10669817.2020.1822618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32962567" target="_blank">32962567</a><a href="/pmc/articles/PMC8183542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30788876">Physical therapy in Down syndrome: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-González L,
|
||
Lucena-Antón D,
|
||
Salazar A,
|
||
Martín-Valero R,
|
||
Moral-Munoz JA</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2019 Aug;63(8):1041-1067.
|
||
Epub 2019 Feb 20
|
||
doi: 10.1111/jir.12606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30788876" target="_blank">30788876</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphosphatasia-intellectual%20disability%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 (757)</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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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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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_content ln"><ul><li><a href="/gtr/tests?term=C1855923%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855923%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1855923%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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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/PS239300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=247262" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperphosphatasia-intellectual%20disability%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(hyperphosphatasia-intellectual%20disability%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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(%22Hyperphosphatasia-intellectual%20disability%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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