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<meta name="keywords" content="C0033847, disease or syndrome, pseudoxanthoma elasticum, pseudoxanthoma elasticum (inherited or acquired), pxe, pxe - pseudoxanthoma elasticum, 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="Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=18733
|
||
ConceptID=C0033847
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pseudoxanthoma elasticum<span class="h1sub">(PXE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18733</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.">C0033847</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>Pseudoxanthoma elasticum (inherited or acquired)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pseudoxanthoma elasticum (252246005); PXE - Pseudoxanthoma elasticum (252246005)</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/64132">XYLT2</a>, <a target="_blank" href="/gene/64131">XYLT1</a>, <a target="_blank" href="/gene/368">ABCC6</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024308" target="_blank">MONDO:0024308</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/264800" target="_blank">264800</a>; <a href="https://omim.org/entry/603234" target="_blank">603234</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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1113" target="_blank">Pseudoxanthoma Elasticum</a></div><div>Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span. [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/NBK1113#pxe.Summary" target="NBK1113">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Diagnosis" target="NBK1113">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Clinical_Characteristics" target="NBK1113">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Genetically_Related_Allelic_Disorder" target="NBK1113">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Differential_Diagnosis" target="NBK1113">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Management" target="NBK1113">Management</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Genetic_Counseling" target="NBK1113">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Resources" target="NBK1113">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Molecular_Genetics" target="NBK1113">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.Chapter_Notes" target="NBK1113">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1113#pxe.References" target="NBK1113">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Sharon F Terry | Jouni Uitto <a href="/books/NBK1113" target="NBK1113" title="NCBI Bookshelf: Pseudoxanthoma Elasticum">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.<br /><br />In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.<br /><br />Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum">https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0033847[DISCUI]&test_type=Clinical" ref="ncbi_uid=18733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18733" target="_blank" href="/omim/264800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=18733">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18733" ref="ncbi_uid=18733">V</a></span></span><span class="TLline">Pseudoxanthoma elasticum</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/698082" ref="tree=GTR&ncbi_uid=698082&link_uid=698082" title="View MedGen record for 'Acquired pseudoxanthoma elasticum'">Acquired pseudoxanthoma elasticum</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=C1275116[DISCUI]&test_type=Clinical" ref="ncbi_uid=698415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=698415">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=698415" ref="ncbi_uid=698415">V</a></span></span><span class="TLline"><a href="/medgen/698415" ref="tree=GTR&ncbi_uid=698415&link_uid=698415" title="View MedGen record for 'Autosomal recessive inherited pseudoxanthoma elasticum'">Autosomal recessive inherited pseudoxanthoma elasticum</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/697574" ref="tree=GTR&ncbi_uid=697574&link_uid=697574" title="View MedGen record for 'Inherited pseudoxanthoma elasticum'">Inherited pseudoxanthoma elasticum</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867450[DISCUI]&test_type=Clinical" ref="ncbi_uid=357280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357280" target="_blank" href="/omim/177850">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=357280">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357280" ref="ncbi_uid=357280">V</a></span></span><span class="TLline"><a href="/medgen/357280" ref="tree=GTR&ncbi_uid=357280&link_uid=357280" title="View MedGen record for 'Pseudoxanthoma elasticum, forme fruste'">Pseudoxanthoma elasticum, forme fruste</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="matched_ds">Pseudoxanthoma elasticum</span><ul><li><span class="TLline"><a href="/medgen/698082" ref="tree=MeSH" title="MedGen record for Acquired pseudoxanthoma elasticum">Acquired pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/698415" ref="tree=MeSH" title="MedGen record for Autosomal recessive inherited pseudoxanthoma elasticum">Autosomal recessive inherited pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/697574" ref="tree=MeSH" title="MedGen record for Inherited pseudoxanthoma elasticum">Inherited pseudoxanthoma elasticum</a></span><ul><li><span class="TLline"><a href="/medgen/357280" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum, forme fruste">Pseudoxanthoma elasticum, forme fruste</a></span></li></ul></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=3728&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Pseudoxanthoma elasticum</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/35394086">Author reply to comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwanaga A,
|
||
Murota H</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2022 Jul;49(7):e250.
|
||
Epub 2022 Apr 8
|
||
doi: 10.1111/1346-8138.16379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35394086" target="_blank">35394086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35318717">Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Terry SF,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2022 Jul;49(7):e248-e249.
|
||
Epub 2022 Mar 22
|
||
doi: 10.1111/1346-8138.16354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35318717" target="_blank">35318717</a><a href="/pmc/articles/PMC9253068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29487417">Clinical utility gene card: for pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legrand A,
|
||
Benistan K,
|
||
Mazzella JM,
|
||
Adham S,
|
||
Frank M,
|
||
Jeunemaitre X,
|
||
Albuisson J</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Jun;26(6):919-924.
|
||
Epub 2018 Feb 27
|
||
doi: 10.1038/s41431-017-0090-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29487417" target="_blank">29487417</a><a href="/pmc/articles/PMC5974343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pseudoxanthoma%20elasticum%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 (35)</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/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2024 Jan-Feb;69(1):1-23.
|
||
Epub 2023 Aug 6
|
||
doi: 10.1016/j.survophthal.2023.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906475">Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeidian AH,
|
||
Youssefian L,
|
||
Huang J,
|
||
Touati A,
|
||
Vahidnezhad H,
|
||
Kowal L,
|
||
Caffet M,
|
||
Wurst T,
|
||
Singh J,
|
||
Snook AE,
|
||
Ryu E,
|
||
Fortina P,
|
||
Terry SF,
|
||
Schoenecker JG,
|
||
Uitto J,
|
||
Li Q</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Jan;24(1):75-86.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.gim.2021.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906475" target="_blank">34906475</a><a href="/pmc/articles/PMC8943706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28486967">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Germain DP</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 May 10;12(1):85.
|
||
doi: 10.1186/s13023-017-0639-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28486967" target="_blank">28486967</a><a href="/pmc/articles/PMC5424392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26759320">Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueiredo AC,
|
||
Mata-Machado N,
|
||
McCoyd M,
|
||
Biller J</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2016 Feb;16(2):19.
|
||
doi: 10.1007/s11910-015-0612-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26759320" target="_blank">26759320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25277047">Basic data underlying decision making in nonatherosclerotic causes of intermittent claudication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apigian AK,
|
||
Landry GJ</span><br />
|
||
<span class="medgenPMjournal">Ann Vasc Surg</span>
|
||
2015 Jan;29(1):138-53.
|
||
Epub 2014 Sep 30
|
||
doi: 10.1016/j.avsg.2014.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25277047" target="_blank">25277047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (260)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34787669">Pseudoxanthoma Elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brokamp G,
|
||
Mori M,
|
||
Faith EF</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2022 Jan 1;158(1):100.
|
||
doi: 10.1001/jamadermatol.2021.4059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34787669" target="_blank">34787669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32502256">Pseudoxanthoma elasticum and angioid streaks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhary S,
|
||
Srivastava A,
|
||
Gupta S</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2021 Jul 28;114(4):274.
|
||
doi: 10.1093/qjmed/hcaa190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32502256" target="_blank">32502256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15970621">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laube S,
|
||
Moss C</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2005 Jul;90(7):754-6.
|
||
doi: 10.1136/adc.2004.062075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15970621" target="_blank">15970621</a><a href="/pmc/articles/PMC1720489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7046115">Angioid streaks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarkson JG,
|
||
Altman RD</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
1982 Mar-Apr;26(5):235-46.
|
||
doi: 10.1016/0039-6257(82)90158-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7046115" target="_blank">7046115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5852690">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fountain RB,
|
||
Scott OL</span><br />
|
||
<span class="medgenPMjournal">Proc R Soc Med</span>
|
||
1965 Dec;58(12):1091-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5852690" target="_blank">5852690</a><a href="/pmc/articles/PMC1899047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (527)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580324">Angioid streaks in pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waqar M,
|
||
Dhingra N</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2019 Apr;95(1122):220.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1136/postgradmedj-2018-136088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580324" target="_blank">30580324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28371817">Rheumatological complications of beta-thalassaemia: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noureldine MHA,
|
||
Taher AT,
|
||
Haydar AA,
|
||
Berjawi A,
|
||
Khamashta MA,
|
||
Uthman I</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2018 Jan 1;57(1):19-27.
|
||
doi: 10.1093/rheumatology/kex058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28371817" target="_blank">28371817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26564082">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roach ES,
|
||
Islam MP</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:215-21.
|
||
doi: 10.1016/B978-0-444-62702-5.00015-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26564082" target="_blank">26564082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3360560">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neldner KH</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1988 Mar;27(2):98-100.
|
||
doi: 10.1111/j.1365-4362.1988.tb01280.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3360560" target="_blank">3360560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3359381">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neldner KH</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
1988 Jan-Mar;6(1):1-159.
|
||
doi: 10.1016/0738-081x(88)90003-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3359381" target="_blank">3359381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (161)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39820891">Differential Diagnosis of Age-Related Macular Degeneration.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Charbel Issa P,
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De Silva SR,
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Pfau K,
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<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
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2025 Jan;242(1):7-21.
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|
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doi: 10.1055/a-2327-8597.
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<span class="bold">PMID: </span><a href="/pubmed/39820891" target="_blank">39820891</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34906475">Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeidian AH,
|
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Youssefian L,
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Huang J,
|
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Touati A,
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Vahidnezhad H,
|
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Kowal L,
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Caffet M,
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Wurst T,
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Singh J,
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Snook AE,
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Ryu E,
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Fortina P,
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Terry SF,
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Schoenecker JG,
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Uitto J,
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Li Q</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jan;24(1):75-86.
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Epub 2021 Nov 30
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/34906475" target="_blank">34906475</a><a href="/pmc/articles/PMC8943706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15970621">Pseudoxanthoma elasticum.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Laube S,
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<span class="bold">PMID: </span><a href="/pubmed/15970621" target="_blank">15970621</a><a href="/pmc/articles/PMC1720489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3360560">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neldner KH</span><br />
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<span class="medgenPMjournal">Int J Dermatol</span>
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<span class="bold">PMID: </span><a href="/pubmed/3360560" target="_blank">3360560</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/3359381">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neldner KH</span><br />
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<span class="medgenPMjournal">Clin Dermatol</span>
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<span class="bold">PMID: </span><a href="/pubmed/3359381" target="_blank">3359381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (146)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906475">Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeidian AH,
|
||
Youssefian L,
|
||
Huang J,
|
||
Touati A,
|
||
Vahidnezhad H,
|
||
Kowal L,
|
||
Caffet M,
|
||
Wurst T,
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||
Singh J,
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||
Snook AE,
|
||
Ryu E,
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||
Fortina P,
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||
Terry SF,
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Schoenecker JG,
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Uitto J,
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Li Q</span><br />
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||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Jan;24(1):75-86.
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||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.gim.2021.08.011.
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||
<span class="bold">PMID: </span><a href="/pubmed/34906475" target="_blank">34906475</a><a href="/pmc/articles/PMC8943706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21039331">ABCC6 as a target in pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Váradi A,
|
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Szabó Z,
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Pomozi V,
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de Boussac H,
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Fülöp K,
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Arányi T</span><br />
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<span class="medgenPMjournal">Curr Drug Targets</span>
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2011 May;12(5):671-82.
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doi: 10.2174/138945011795378612.
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<span class="bold">PMID: </span><a href="/pubmed/21039331" target="_blank">21039331</a><a href="/pmc/articles/PMC3324121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19936772">Mid-dermal elastolysis revisited.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gambichler T</span><br />
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<span class="medgenPMjournal">Arch Dermatol Res</span>
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2010 Mar;302(2):85-93.
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doi: 10.1007/s00403-009-1004-0.
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<span class="bold">PMID: </span><a href="/pubmed/19936772" target="_blank">19936772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15970621">Pseudoxanthoma elasticum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laube S,
|
||
Moss C</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2005 Jul;90(7):754-6.
|
||
doi: 10.1136/adc.2004.062075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15970621" target="_blank">15970621</a><a href="/pmc/articles/PMC1720489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7086187">Elastin in diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uitto J,
|
||
Ryhänen L,
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Abraham PA,
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Perejda AJ</span><br />
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<span class="medgenPMjournal">J Invest Dermatol</span>
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doi: 10.1111/1523-1747.ep12546063.
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||
<span class="bold">PMID: </span><a href="/pubmed/7086187" target="_blank">7086187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (201)</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/39153684">Progression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bassil FL,
|
||
Colijn JM,
|
||
Thiadens AAHJ,
|
||
Biarnés M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2025 Jan;269:30-48.
|
||
Epub 2024 Aug 15
|
||
doi: 10.1016/j.ajo.2024.07.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39153684" target="_blank">39153684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38141121">Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murshidi R,
|
||
Alnaimat F,
|
||
Al-Halaseh S,
|
||
Hanandeh S,
|
||
Hamad SB,
|
||
Abdaljaleel M,
|
||
Al Ryalat N</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2024 Feb;44(2):379-396.
|
||
Epub 2023 Dec 23
|
||
doi: 10.1007/s00296-023-05509-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38141121" target="_blank">38141121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28131180">Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kauw F,
|
||
Kranenburg G,
|
||
Kappelle LJ,
|
||
Hendrikse J,
|
||
Koek HL,
|
||
Visseren FLJ,
|
||
Mali WPT,
|
||
de Jong PA,
|
||
Spiering W</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2017 Feb 15;373:167-172.
|
||
Epub 2016 Dec 28
|
||
doi: 10.1016/j.jns.2016.12.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28131180" target="_blank">28131180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28125048">GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vilder EY,
|
||
Debacker J,
|
||
Vanakker OM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2017 Jan 25;18(2)
|
||
doi: 10.3390/ijms18020240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28125048" target="_blank">28125048</a><a href="/pmc/articles/PMC5343777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27390837">β-Thalassemia and ocular implications: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liaska A,
|
||
Petrou P,
|
||
Georgakopoulos CD,
|
||
Diamanti R,
|
||
Papaconstantinou D,
|
||
Kanakis MG,
|
||
Georgalas I</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 Jul 8;16:102.
|
||
doi: 10.1186/s12886-016-0285-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27390837" target="_blank">27390837</a><a href="/pmc/articles/PMC4938965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pseudoxanthoma%20elasticum%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 (5)</a></div></div>
|
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</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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0033847%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033847%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033847%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0033847%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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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=(%22pseudoxanthoma%20elasticum%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(%22Pseudoxanthoma%20elasticum%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/Pseudoxanthoma+elasticum/6053" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pseudoxanthoma_elasticum" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pseudoxanthoma%20elasticum" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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