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<!--
|
||
UID=1826003
|
||
ConceptID=C5679574
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mild hemophilia B</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826003</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.">C5679574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Mild congenital F9 deficiency; Mild congenital factor IX deficiency; mild factor IX deficiency; mild haemophilia type B; mild hemophilia B; mild hemophilia type B; Mild hereditary factor IX deficiency disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mild hereditary factor IX deficiency disease (1336091009); Mild hemophilia B (1336091009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015717" target="_blank">MONDO:0015717</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=169799">ORPHA169799</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">A factor activity level of >5 percent of normal and <40 percent of normal. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679574[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1826003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Mild hemophilia B</span></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/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/108723" ref="tree=MeSH" title="MedGen record for Coagulation protein disease">Coagulation protein disease</a></span><ul><li><span class="TLline"><a href="/medgen/945" ref="tree=MeSH" title="MedGen record for Hereditary factor IX deficiency disease">Hereditary factor IX deficiency disease</a></span><ul><li><span class="matched_ds">Mild hemophilia B</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35414333">Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim HI,
|
||
DeSancho MT</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):9759-9764.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1080/14767058.2022.2051699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35414333" target="_blank">35414333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30177475">Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernando RJ,
|
||
Farmer BE,
|
||
Augoustides JG,
|
||
Gardner JC,
|
||
Johnson SD,
|
||
Ha B,
|
||
Friess JO,
|
||
Luedi MM,
|
||
Erdoes G,
|
||
Miller PJ,
|
||
Ripat C,
|
||
Fabbro M</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
|
||
2019 Feb;33(2):549-555.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1053/j.jvca.2018.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30177475" target="_blank">30177475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20594049">Comprehensive treatment of periodontitis in patients with von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickles K,
|
||
Wohlfeil M,
|
||
Alesci S,
|
||
Miesbach W,
|
||
Eickholz P</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2010 Oct;81(10):1432-40.
|
||
doi: 10.1902/jop.2010.100076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20594049" target="_blank">20594049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mild%20hemophilia%20b%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/35365158">Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang X,
|
||
Xu M,
|
||
Ding Y,
|
||
Cao Y,
|
||
Pan Y</span><br />
|
||
<span class="medgenPMjournal">BMC Surg</span>
|
||
2022 Apr 1;22(1):124.
|
||
doi: 10.1186/s12893-022-01553-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35365158" target="_blank">35365158</a><a href="/pmc/articles/PMC8973564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30795708">Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yacoub A,
|
||
Mohyuddin GR,
|
||
Nazzaro JM</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2019 Sep;129(9):933-935.
|
||
Epub 2019 Mar 25
|
||
doi: 10.1080/00207454.2019.1586685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30795708" target="_blank">30795708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19245420">Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardi F,
|
||
Dolce A,
|
||
Pinotti M,
|
||
Shapiro AD,
|
||
Santagostino E,
|
||
Peyvandi F,
|
||
Batorova A,
|
||
Lapecorella M,
|
||
Schved JF,
|
||
Ingerslev J,
|
||
Mariani G;
|
||
International Factor VII Deficiency Study Group</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2009 May;7(5):774-9.
|
||
Epub 2009 Feb 24
|
||
doi: 10.1111/j.1538-7836.2009.03329.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19245420" target="_blank">19245420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17308903">A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quadros L,
|
||
Ghosh K,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2007 May;86(5):377-9.
|
||
Epub 2007 Feb 17
|
||
doi: 10.1007/s00277-007-0250-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17308903" target="_blank">17308903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15921378">Molecular genotyping of the Italian cohort of patients with hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belvini D,
|
||
Salviato R,
|
||
Radossi P,
|
||
Pierobon F,
|
||
Mori P,
|
||
Castaldo G,
|
||
Tagariello G;
|
||
AICE HB Study Group</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2005 May;90(5):635-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15921378" target="_blank">15921378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20hemophilia%20B%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37494968">Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt DE,
|
||
Truedsson Å,
|
||
Strålfors A,
|
||
Hojbjerg JA,
|
||
Soutari N,
|
||
Holmström M,
|
||
Ranta S,
|
||
Letelier A,
|
||
Bowyer A,
|
||
Ljung R,
|
||
Antovic J,
|
||
Bruzelius M</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2024 Jan;124(1):32-39.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1055/a-2142-0262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37494968" target="_blank">37494968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35414333">Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim HI,
|
||
DeSancho MT</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):9759-9764.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1080/14767058.2022.2051699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35414333" target="_blank">35414333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35365158">Recurrent bleeding after rubber band ligation diagnosed as mild hemophilia B: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang X,
|
||
Xu M,
|
||
Ding Y,
|
||
Cao Y,
|
||
Pan Y</span><br />
|
||
<span class="medgenPMjournal">BMC Surg</span>
|
||
2022 Apr 1;22(1):124.
|
||
doi: 10.1186/s12893-022-01553-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35365158" target="_blank">35365158</a><a href="/pmc/articles/PMC8973564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33295842">Normal activated partial thromboplastin time in Chinese patients with mild hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Tang N,
|
||
Shen N,
|
||
Zhu Y,
|
||
Lu Y,
|
||
Gao L</span><br />
|
||
<span class="medgenPMjournal">Hematology</span>
|
||
2020 Dec;25(1):484-488.
|
||
doi: 10.1080/16078454.2020.1853403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33295842" target="_blank">33295842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20305539">A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park CH,
|
||
Seo JY,
|
||
Kim HJ,
|
||
Jang JH,
|
||
Kim SH</span><br />
|
||
<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
|
||
2010 Jun;21(4):368-71.
|
||
doi: 10.1097/MBC.0b013e3283367946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20305539" target="_blank">20305539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20hemophilia%20B%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36151915">A mild hemophilia B case with postoperative bleeds following thromboprophylaxis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watakabe M,
|
||
Shida Y,
|
||
Ogiwara K,
|
||
Inagaki Y,
|
||
Nogami K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2022 Jan;64(1):e15365.
|
||
doi: 10.1111/ped.15365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36151915" target="_blank">36151915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30177475">Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernando RJ,
|
||
Farmer BE,
|
||
Augoustides JG,
|
||
Gardner JC,
|
||
Johnson SD,
|
||
Ha B,
|
||
Friess JO,
|
||
Luedi MM,
|
||
Erdoes G,
|
||
Miller PJ,
|
||
Ripat C,
|
||
Fabbro M</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
|
||
2019 Feb;33(2):549-555.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1053/j.jvca.2018.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30177475" target="_blank">30177475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419787">Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monahan PE,
|
||
Sun J,
|
||
Gui T,
|
||
Hu G,
|
||
Hannah WB,
|
||
Wichlan DG,
|
||
Wu Z,
|
||
Grieger JC,
|
||
Li C,
|
||
Suwanmanee T,
|
||
Stafford DW,
|
||
Booth CJ,
|
||
Samulski JJ,
|
||
Kafri T,
|
||
McPhee SW,
|
||
Samulski RJ</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2015 Feb;26(2):69-81.
|
||
Epub 2015 Jan 21
|
||
doi: 10.1089/hum.2014.106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419787" target="_blank">25419787</a><a href="/pmc/articles/PMC4326268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20594049">Comprehensive treatment of periodontitis in patients with von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickles K,
|
||
Wohlfeil M,
|
||
Alesci S,
|
||
Miesbach W,
|
||
Eickholz P</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2010 Oct;81(10):1432-40.
|
||
doi: 10.1902/jop.2010.100076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20594049" target="_blank">20594049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17720569">Recurrent bleeding following traumatic hyphema due to mild hemophilia B (Christmas disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilker SC,
|
||
Singh A,
|
||
Ellis FJ</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2007 Dec;11(6):622-3.
|
||
Epub 2007 Aug 27
|
||
doi: 10.1016/j.jaapos.2007.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17720569" target="_blank">17720569</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20hemophilia%20B%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30795708">Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited hemophilia B: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yacoub A,
|
||
Mohyuddin GR,
|
||
Nazzaro JM</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2019 Sep;129(9):933-935.
|
||
Epub 2019 Mar 25
|
||
doi: 10.1080/00207454.2019.1586685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30795708" target="_blank">30795708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20594049">Comprehensive treatment of periodontitis in patients with von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickles K,
|
||
Wohlfeil M,
|
||
Alesci S,
|
||
Miesbach W,
|
||
Eickholz P</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2010 Oct;81(10):1432-40.
|
||
doi: 10.1902/jop.2010.100076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20594049" target="_blank">20594049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15921378">Molecular genotyping of the Italian cohort of patients with hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belvini D,
|
||
Salviato R,
|
||
Radossi P,
|
||
Pierobon F,
|
||
Mori P,
|
||
Castaldo G,
|
||
Tagariello G;
|
||
AICE HB Study Group</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2005 May;90(5):635-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15921378" target="_blank">15921378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11583320">Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefkowitz JB,
|
||
Nuss R,
|
||
Haver T,
|
||
Jacobson L,
|
||
Thompson AR,
|
||
Manco-Johnson M</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2001 Sep;86(3):862-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11583320" target="_blank">11583320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1871712">Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamaguchi M,
|
||
Matsushita T,
|
||
Tanimoto M,
|
||
Takahashi I,
|
||
Yamamoto K,
|
||
Sugiura I,
|
||
Takamatsu J,
|
||
Ogata K,
|
||
Kamiya T,
|
||
Saito H</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1991 May 6;65(5):514-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1871712" target="_blank">1871712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20hemophilia%20B%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37494968">Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt DE,
|
||
Truedsson Å,
|
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Strålfors A,
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Hojbjerg JA,
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Soutari N,
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Holmström M,
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Ranta S,
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Letelier A,
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Bowyer A,
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Ljung R,
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<span class="medgenPMjournal">Thromb Haemost</span>
|
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2024 Jan;124(1):32-39.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1055/a-2142-0262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37494968" target="_blank">37494968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419787">Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monahan PE,
|
||
Sun J,
|
||
Gui T,
|
||
Hu G,
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||
Hannah WB,
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||
Wichlan DG,
|
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Wu Z,
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Grieger JC,
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Li C,
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Suwanmanee T,
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Stafford DW,
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Booth CJ,
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Samulski JJ,
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Kafri T,
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Samulski RJ</span><br />
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<span class="medgenPMjournal">Hum Gene Ther</span>
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2015 Feb;26(2):69-81.
|
||
Epub 2015 Jan 21
|
||
doi: 10.1089/hum.2014.106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419787" target="_blank">25419787</a><a href="/pmc/articles/PMC4326268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20594049">Comprehensive treatment of periodontitis in patients with von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickles K,
|
||
Wohlfeil M,
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||
Alesci S,
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Miesbach W,
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Eickholz P</span><br />
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<span class="medgenPMjournal">J Periodontol</span>
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2010 Oct;81(10):1432-40.
|
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doi: 10.1902/jop.2010.100076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20594049" target="_blank">20594049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19245420">Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardi F,
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||
Dolce A,
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||
Pinotti M,
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||
Shapiro AD,
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Santagostino E,
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||
Peyvandi F,
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||
Batorova A,
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||
Lapecorella M,
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||
Schved JF,
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||
Ingerslev J,
|
||
Mariani G;
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||
International Factor VII Deficiency Study Group</span><br />
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||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2009 May;7(5):774-9.
|
||
Epub 2009 Feb 24
|
||
doi: 10.1111/j.1538-7836.2009.03329.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19245420" target="_blank">19245420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11583320">Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefkowitz JB,
|
||
Nuss R,
|
||
Haver T,
|
||
Jacobson L,
|
||
Thompson AR,
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||
Manco-Johnson M</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2001 Sep;86(3):862-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11583320" target="_blank">11583320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20hemophilia%20B%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 (9)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5679574%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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