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<meta name="keywords" content="C0155912, alveolar microlithiasis, disease or syndrome, pam - pulmonary alveolar microlithiasis, pulam, pulmonary alveolar microlithiasis, slc34a2, 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="Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by Corut et al., 2006)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=56374
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ConceptID=C0155912
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">PULMONARY ALVEOLAR MICROLITHIASIS<span class="h1sub">(PULAM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56374</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0155912</span></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>Pulmonary Alveolar Microlithiasis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pulmonary alveolar microlithiasis (87153008); Alveolar microlithiasis (87153008); PAM - Pulmonary alveolar microlithiasis (87153008)</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="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SLC34A2 - ID: 10568 - NCBI Gene" href="/gene/10568" class="medgenPMinfo">SLC34A2</a> (4p15.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009928" target="_blank">MONDO:0009928</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/265100" target="_blank">265100</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=60025">ORPHA60025</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by Corut et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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 />Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths.<br /><br />Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the disorder is discovered before symptoms develop, when medical imaging is done for other reasons. The condition typically worsens slowly over many years, although some affected individuals have signs and symptoms that remain stable for long periods of time.<br /><br />People with pulmonary alveolar microlithiasis can also develop calcium phosphate deposits in other organs and tissues of the body, including the kidneys, gallbladder, testes, and the valve that connects a large blood vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related to accumulation of these deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis">https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_341487"><div><strong>Progressive pulmonary function impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341487</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.">C1849570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341487">Feature record</a> | <a href="/medgen?term=%22Progressive%20pulmonary%20function%20impairment%22%5BClinical%20Features%5D%20OR%20341487%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478856"><div><strong>Restrictive ventilatory defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478856</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.">C3277226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478856">Feature record</a> | <a href="/medgen?term=%22Restrictive%20ventilatory%20defect%22%5BClinical%20Features%5D%20OR%20478856%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870579"><div><strong>Intraalveolar nodular calcifications</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870579</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.">C4025028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870579">Feature record</a> | <a href="/medgen?term=%22Intraalveolar%20nodular%20calcifications%22%5BClinical%20Features%5D%20OR%20870579%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intraalveolar nodular calcifications</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive pulmonary function impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive ventilatory defect</a></span></li></ul></li></ul></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/32622842">Intractable diffuse pulmonary diseases: Manual for diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma S,
|
||
Ebina M,
|
||
Kuwano K,
|
||
Goto H,
|
||
Sakai F,
|
||
Sakamoto S,
|
||
Johkoh T,
|
||
Sugino K,
|
||
Tachibana T,
|
||
Terasaki Y,
|
||
Nishioka Y,
|
||
Hagiwara K,
|
||
Hashimoto N,
|
||
Hasegawa Y,
|
||
Hebisawa A;
|
||
Ministry of Health, Labour and Welfare, the Study Group on Diffuse Pulmonary Disorders, Scientific Research/Research on Intractable Diseases, and Japanese Respiratory Society</span><br />
|
||
<span class="medgenPMjournal">Respir Investig</span>
|
||
2021 Jan;59(1):8-33.
|
||
Epub 2020 Jul 2
|
||
doi: 10.1016/j.resinv.2020.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32622842" target="_blank">32622842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25812931">Pulmonary calcifications: a pictorial review and approach to formulating a differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin SB,
|
||
Slater R,
|
||
Mohammed TL</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Diagn Radiol</span>
|
||
2015 May-Jun;44(3):267-76.
|
||
Epub 2015 Jan 3
|
||
doi: 10.1067/j.cpradiol.2014.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25812931" target="_blank">25812931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19617834">Pulmonary alveolar microlithiasis: review and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tachibana T,
|
||
Hagiwara K,
|
||
Johkoh T</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
|
||
2009 Sep;15(5):486-90.
|
||
doi: 10.1097/MCP.0b013e32832d03bb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19617834" target="_blank">19617834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pulmonary%20alveolar%20microlithiasis%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 (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38342349">Severe pulmonary hypertension in pulmonary alveolar microlithiasis: A comprehensive literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cueto-Robledo G,
|
||
Cantero-Ceballos MD,
|
||
Gonzalez-Hermosillo LM,
|
||
Navarro-Vergara DI,
|
||
Garcia-Cesar M,
|
||
Torres-Rojas MB,
|
||
Hernandez-Villa L,
|
||
Serrato BG,
|
||
Alfaro-Cruz A</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Cardiol</span>
|
||
2024 May;49(5):102453.
|
||
Epub 2024 Feb 9
|
||
doi: 10.1016/j.cpcardiol.2024.102453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38342349" target="_blank">38342349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26643188">A rare case of pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asciak R,
|
||
Pullicino R,
|
||
Mizzi A,
|
||
Montefort S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Dec 7;2015
|
||
doi: 10.1136/bcr-2015-212804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26643188" target="_blank">26643188</a><a href="/pmc/articles/PMC4680284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26621975">Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellana G,
|
||
Castellana G,
|
||
Gentile M,
|
||
Castellana R,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2015 Dec;24(138):607-20.
|
||
doi: 10.1183/16000617.0036-2015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26621975" target="_blank">26621975</a><a href="/pmc/articles/PMC9487614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9377936">Bilateral sequential lung transplantation for pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edelman JD,
|
||
Bavaria J,
|
||
Kaiser LR,
|
||
Litzky LA,
|
||
Palevsky HI,
|
||
Kotloff RM</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
1997 Oct;112(4):1140-4.
|
||
doi: 10.1378/chest.112.4.1140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9377936" target="_blank">9377936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1483718">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu MK,
|
||
Kumar KR,
|
||
Thomas JA</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
1992 Apr;35(2):149-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1483718" target="_blank">1483718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33434115">Pulmonary Alveolar Microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ufuk F</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2021 Mar;298(3):567.
|
||
Epub 2021 Jan 12
|
||
doi: 10.1148/radiol.2021203272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33434115" target="_blank">33434115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33246992">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosciuk P,
|
||
Meyer C,
|
||
Wikenheiser-Brokamp KA,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2020 Dec 31;29(158)
|
||
Epub 2020 Nov 27
|
||
doi: 10.1183/16000617.0024-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246992" target="_blank">33246992</a><a href="/pmc/articles/PMC9488654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279298">Pulmonary Alveolar Microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw BM,
|
||
Shaw SD,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2020 Apr;41(2):280-287.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1055/s-0040-1702211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279298" target="_blank">32279298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28212835">Chest CT Signs in Pulmonary Disease: A Pictorial Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raju S,
|
||
Ghosh S,
|
||
Mehta AC</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2017 Jun;151(6):1356-1374.
|
||
Epub 2017 Feb 16
|
||
doi: 10.1016/j.chest.2016.12.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28212835" target="_blank">28212835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21551211">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giallauria F,
|
||
Giallauria G</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2011 Sep;66(9):840.
|
||
Epub 2011 May 6
|
||
doi: 10.1136/thx.2011.159137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21551211" target="_blank">21551211</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%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 (130)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279298">Pulmonary Alveolar Microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw BM,
|
||
Shaw SD,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2020 Apr;41(2):280-287.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1055/s-0040-1702211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279298" target="_blank">32279298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31315848">Pulmonary alveolar microlithiasis: often misdiagnosed in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar P,
|
||
Binit S,
|
||
Goyal JP</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Jul 16;12(7)
|
||
doi: 10.1136/bcr-2019-230776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31315848" target="_blank">31315848</a><a href="/pmc/articles/PMC6663229" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27553891">Diagnosis and treatment of pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emiralioglu N,
|
||
Beken B,
|
||
Ozcan HN,
|
||
Yalcin E,
|
||
Dogru D,
|
||
Ozcelik U,
|
||
Haliloglu M,
|
||
Kiper N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2016 Aug;58(8):805-7.
|
||
doi: 10.1111/ped.13032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27553891" target="_blank">27553891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27514591">Pulmonary Alveolar Microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito A,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2016 Sep;37(3):441-8.
|
||
Epub 2016 Jun 24
|
||
doi: 10.1016/j.ccm.2016.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27514591" target="_blank">27514591</a><a href="/pmc/articles/PMC4987712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15310013">What's your diagnosis? Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erkan L,
|
||
Findik S,
|
||
Akpolat I,
|
||
Uzun O,
|
||
Uncesu L,
|
||
Bacoglu T</span><br />
|
||
<span class="medgenPMjournal">Ann Saudi Med</span>
|
||
2004 Jan-Feb;24(1):40, 68-9.
|
||
doi: 10.5144/0256-4947.2004.40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15310013" target="_blank">15310013</a><a href="/pmc/articles/PMC6147815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33246992">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosciuk P,
|
||
Meyer C,
|
||
Wikenheiser-Brokamp KA,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2020 Dec 31;29(158)
|
||
Epub 2020 Nov 27
|
||
doi: 10.1183/16000617.0024-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246992" target="_blank">33246992</a><a href="/pmc/articles/PMC9488654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30086281">Progressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CW,
|
||
Wu FZ</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2019 Jan;107(1):e55.
|
||
Epub 2018 Aug 4
|
||
doi: 10.1016/j.athoracsur.2018.06.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30086281" target="_blank">30086281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26643188">A rare case of pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asciak R,
|
||
Pullicino R,
|
||
Mizzi A,
|
||
Montefort S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Dec 7;2015
|
||
doi: 10.1136/bcr-2015-212804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26643188" target="_blank">26643188</a><a href="/pmc/articles/PMC4680284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21920928">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glynos C,
|
||
Papathanasiou N,
|
||
Nikoloutsou I,
|
||
Stathopoulos GT</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2011 Sep 15;184(6):740.
|
||
doi: 10.1164/rccm.201101-0186IM.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21920928" target="_blank">21920928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1483718">Pulmonary alveolar microlithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu MK,
|
||
Kumar KR,
|
||
Thomas JA</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
1992 Apr;35(2):149-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1483718" target="_blank">1483718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35139546">Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Oliveira Mekonnen A,
|
||
Schwerk N,
|
||
Schütz K,
|
||
Schramm L,
|
||
Dreissig A,
|
||
Grewendorf S,
|
||
Sukdolak C,
|
||
Dopfer C,
|
||
Auber B,
|
||
von Hardenberg S,
|
||
Happle C</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2022 Sep;234(5):317-319.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1055/a-1721-2545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35139546" target="_blank">35139546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31761429">Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sigur E,
|
||
Roditis L,
|
||
Labouret G,
|
||
Bieth E,
|
||
Simon S,
|
||
Martin-Blondel A,
|
||
Michelet M,
|
||
Mittaine M,
|
||
Blanchon S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2020 Feb;217:158-164.e1.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/j.jpeds.2019.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31761429" target="_blank">31761429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26621975">Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellana G,
|
||
Castellana G,
|
||
Gentile M,
|
||
Castellana R,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2015 Dec;24(138):607-20.
|
||
doi: 10.1183/16000617.0036-2015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26621975" target="_blank">26621975</a><a href="/pmc/articles/PMC9487614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24085587">Pulmonary alveolar microlithiasis: imaging characteristics of planar and SPECT/CT bone scan versus 18F-FDG and 18F-sodium fluoride PET/CT scanning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahoo MK,
|
||
Karunanithi S,
|
||
Bal CS</span><br />
|
||
<span class="medgenPMjournal">Jpn J Radiol</span>
|
||
2013 Nov;31(11):766-9.
|
||
Epub 2013 Oct 2
|
||
doi: 10.1007/s11604-013-0250-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24085587" target="_blank">24085587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6460583">Bone scintigraphy in pulmonary alveolar microlithiasis: a comparative study of radioactivity and density distribution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shigeno C,
|
||
Fukunaga M,
|
||
Morita R,
|
||
Maeda H,
|
||
Hino M,
|
||
Torizuka K</span><br />
|
||
<span class="medgenPMjournal">Clin Nucl Med</span>
|
||
1982 Mar;7(3):103-7.
|
||
doi: 10.1097/00003072-198203000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6460583" target="_blank">6460583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%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 (20)</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/37259144">New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jönsson ÅLM,
|
||
Hilberg O,
|
||
Simonsen U,
|
||
Christensen JH,
|
||
Bendstrup E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 May 31;18(1):130.
|
||
doi: 10.1186/s13023-023-02712-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37259144" target="_blank">37259144</a><a href="/pmc/articles/PMC10230741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26024716">Pulmonary alveolar microlithiasis: an interesting case report with systematic review of Indian literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganesan N,
|
||
Ambroise MM,
|
||
Ramdas A,
|
||
Kisku KH,
|
||
Singh K,
|
||
Varghese RG</span><br />
|
||
<span class="medgenPMjournal">Front Med</span>
|
||
2015 Jun;9(2):229-38.
|
||
Epub 2015 May 30
|
||
doi: 10.1007/s11684-015-0394-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26024716" target="_blank">26024716</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22PULMONARY%20ALVEOLAR%20MICROLITHIASIS%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0155912%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0155912%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0155912%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0155912%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=265100" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=60025" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=PULMONARY%20ALVEOLAR%20MICROLITHIASIS" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pulmonary%20alveolar%20microlithiasis%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604217" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10568[geneid]" target="_blank">View SLC34A2 variations in ClinVar</a></li><li><a href="/nuccore/295849280" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=265100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pulmonary+alveolar+microlithiasis/9197" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pulmonary_alveolar_microlithiasis" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=PULMONARY%20ALVEOLAR%20MICROLITHIASIS" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/11894/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=PULMONARY%20ALVEOLAR%20MICROLITHIASIS" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=PULMONARY%20ALVEOLAR%20MICROLITHIASIS%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=56374" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=56374" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0155912[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0155912[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=56374" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=56374" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=56374" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=56374" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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