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<meta name="keywords" content="C5680274, disease or syndrome, primary bone dysplasia with increased bone density, primary osteodysplasia with increased bone density, primary skeletal dysplasia with increased bone density, sclerosing bone dysplasia, sclerosing bone dysplasias, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1842790
|
||
ConceptID=C5680274
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Primary bone dysplasia with increased bone density</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842790</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:">C5680274</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>Sclerosing Bone Dysplasias</td></tr>
|
||
<tr><td colspan="2" class="small"> </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=93444">ORPHA93444</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_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<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="TLline">Primary bone dysplasia with increased bone density</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Primary bone dysplasia with increased bone density</span><ul><li><span class="TLline"><a href="/medgen/96080" ref="tree=MeSH" title="MedGen record for Craniodiaphyseal dysplasia">Craniodiaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1382152" ref="tree=MeSH" title="MedGen record for Craniometadiaphyseal dysplasia wormian bone type">Craniometadiaphyseal dysplasia wormian bone type</a></span></li><li><span class="TLline"><a href="/medgen/82702" ref="tree=MeSH" title="MedGen record for Craniometaphyseal dysplasia">Craniometaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/318939" ref="tree=MeSH" title="MedGen record for Dacryocystitis-osteopoikilosis syndrome">Dacryocystitis-osteopoikilosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/350613" ref="tree=MeSH" title="MedGen record for Diaphyseal medullary stenosis-bone malignancy syndrome">Diaphyseal medullary stenosis-bone malignancy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1683894" ref="tree=MeSH" title="MedGen record for Dysplastic cortical hyperostosis">Dysplastic cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/344739" ref="tree=MeSH" title="MedGen record for Ghosal hematodiaphyseal dysplasia">Ghosal hematodiaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1672817" ref="tree=MeSH" title="MedGen record for High bone mass osteogenesis imperfecta">High bone mass osteogenesis imperfecta</a></span></li><li><span class="TLline"><a href="/medgen/327093" ref="tree=MeSH" title="MedGen record for Hyperostosis cranialis interna">Hyperostosis cranialis interna</a></span></li><li><span class="TLline"><a href="/medgen/98484" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia tarda">Hyperphosphatasemia tarda</a></span></li><li><span class="TLline"><a href="/medgen/75678" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia with bone disease">Hyperphosphatasemia with bone disease</a></span></li><li><span class="TLline"><a href="/medgen/482274" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/322251" ref="tree=MeSH" title="MedGen record for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia</a></span></li><li><span class="TLline"><a href="/medgen/98483" ref="tree=MeSH" title="MedGen record for Lenz-Majewski hyperostosis syndrome">Lenz-Majewski hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/381277" ref="tree=MeSH" title="MedGen record for Metaphyseal dysplasia, Braun-Tinschert type">Metaphyseal dysplasia, Braun-Tinschert type</a></span></li><li><span class="TLline"><a href="/medgen/167236" ref="tree=MeSH" title="MedGen record for Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/419711" ref="tree=MeSH" title="MedGen record for Osteopathia striata-pigmentary dermopathy-white forelock syndrome">Osteopathia striata-pigmentary dermopathy-white forelock syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140931" ref="tree=MeSH" title="MedGen record for Osteosclerosis - Stanescu type">Osteosclerosis - Stanescu type</a></span></li><li><span class="TLline"><a href="/medgen/355875" ref="tree=MeSH" title="MedGen record for Osteosclerosis-ichthyosis-premature ovarian failure syndrome">Osteosclerosis-ichthyosis-premature ovarian failure syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82704" ref="tree=MeSH" title="MedGen record for Pyle metaphyseal dysplasia">Pyle metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120530" ref="tree=MeSH" title="MedGen record for Sclerosteosis">Sclerosteosis</a></span><ul><li><span class="TLline"><a href="/medgen/1642815" ref="tree=MeSH" title="MedGen record for Sclerosteosis 1">Sclerosteosis 1</a></span></li><li><span class="TLline"><a href="/medgen/482032" ref="tree=MeSH" title="MedGen record for Sclerosteosis 2">Sclerosteosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1388986" ref="tree=MeSH" title="MedGen record for Spastic paraplegia-Paget disease of bone syndrome">Spastic paraplegia-Paget disease of bone syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78555" ref="tree=MeSH" title="MedGen record for Tricho-dento-osseous syndrome">Tricho-dento-osseous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140932" ref="tree=MeSH" title="MedGen record for Worth disease">Worth disease</a></span></li><li><span class="TLline"><a href="/medgen/1674665" ref="tree=MeSH" title="MedGen record for X-linked calvarial hyperostosis">X-linked calvarial hyperostosis</a></span></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/30160216">Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sridharan K,
|
||
Sivaramakrishnan G</span><br />
|
||
<span class="medgenPMjournal">Curr Clin Pharmacol</span>
|
||
2018;13(3):190-198.
|
||
doi: 10.2174/1574884713666180829143927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30160216" target="_blank">30160216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20391497">Inflammatory and degenerative sacroiliac joint disease in a primary back pain cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Shea FD,
|
||
Boyle E,
|
||
Salonen DC,
|
||
Ammendolia C,
|
||
Peterson C,
|
||
Hsu W,
|
||
Inman RD</span><br />
|
||
<span class="medgenPMjournal">Arthritis Care Res (Hoboken)</span>
|
||
2010 Apr;62(4):447-54.
|
||
doi: 10.1002/acr.20168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20391497" target="_blank">20391497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9890301">Orthopedic management of osteopetrosis: results of a survey and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong DG,
|
||
Newfield JT,
|
||
Gillespie R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1999 Jan-Feb;19(1):122-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9890301" target="_blank">9890301</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20bone%20dysplasia%20with%20increased%20bone%20density)%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 (8)</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/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33088414">Pleomorphic Sarcoma in a Patient with Osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGill K,
|
||
Motamedi D,
|
||
Azimi N,
|
||
Horvai A,
|
||
O'Donnell R</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2020 Jul;14(7):1-9.
|
||
Epub 2020 Jul 31
|
||
doi: 10.3941/jrcr.v14i7.3920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33088414" target="_blank">33088414</a><a href="/pmc/articles/PMC7536008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32891212">Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Tofts L,
|
||
Irving M,
|
||
Wilcox W,
|
||
Bacino CA,
|
||
Hoover-Fong J,
|
||
Ullot Font R,
|
||
Harmatz P,
|
||
Rutsch F,
|
||
Bober MB,
|
||
Polgreen LE,
|
||
Ginebreda I,
|
||
Mohnike K,
|
||
Charrow J,
|
||
Hoernschemeyer D,
|
||
Ozono K,
|
||
Alanay Y,
|
||
Arundel P,
|
||
Kagami S,
|
||
Yasui N,
|
||
White KK,
|
||
Saal HM,
|
||
Leiva-Gea A,
|
||
Luna-González F,
|
||
Mochizuki H,
|
||
Basel D,
|
||
Porco DM,
|
||
Jayaram K,
|
||
Fisheleva E,
|
||
Huntsman-Labed A,
|
||
Day J</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2020 Sep 5;396(10252):684-692.
|
||
doi: 10.1016/S0140-6736(20)31541-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32891212" target="_blank">32891212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232111">Osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark Z,
|
||
Savarirayan R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Feb 20;4:5.
|
||
doi: 10.1186/1750-1172-4-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232111" target="_blank">19232111</a><a href="/pmc/articles/PMC2654865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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 (79)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33088414">Pleomorphic Sarcoma in a Patient with Osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGill K,
|
||
Motamedi D,
|
||
Azimi N,
|
||
Horvai A,
|
||
O'Donnell R</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2020 Jul;14(7):1-9.
|
||
Epub 2020 Jul 31
|
||
doi: 10.3941/jrcr.v14i7.3920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33088414" target="_blank">33088414</a><a href="/pmc/articles/PMC7536008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32891212">Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Tofts L,
|
||
Irving M,
|
||
Wilcox W,
|
||
Bacino CA,
|
||
Hoover-Fong J,
|
||
Ullot Font R,
|
||
Harmatz P,
|
||
Rutsch F,
|
||
Bober MB,
|
||
Polgreen LE,
|
||
Ginebreda I,
|
||
Mohnike K,
|
||
Charrow J,
|
||
Hoernschemeyer D,
|
||
Ozono K,
|
||
Alanay Y,
|
||
Arundel P,
|
||
Kagami S,
|
||
Yasui N,
|
||
White KK,
|
||
Saal HM,
|
||
Leiva-Gea A,
|
||
Luna-González F,
|
||
Mochizuki H,
|
||
Basel D,
|
||
Porco DM,
|
||
Jayaram K,
|
||
Fisheleva E,
|
||
Huntsman-Labed A,
|
||
Day J</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2020 Sep 5;396(10252):684-692.
|
||
doi: 10.1016/S0140-6736(20)31541-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32891212" target="_blank">32891212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26138837">A Practical Approach to Hypocalcaemia in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw NJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2015;28:84-100.
|
||
Epub 2015 Jun 12
|
||
doi: 10.1159/000380997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26138837" target="_blank">26138837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232111">Osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark Z,
|
||
Savarirayan R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Feb 20;4:5.
|
||
doi: 10.1186/1750-1172-4-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232111" target="_blank">19232111</a><a href="/pmc/articles/PMC2654865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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 (100)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37480122">Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leerling AT,
|
||
Clunie G,
|
||
Koutrouba E,
|
||
Dekkers OM,
|
||
Appelman-Dijkstra NM,
|
||
Winter EM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Jul 21;18(1):206.
|
||
doi: 10.1186/s13023-023-02831-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37480122" target="_blank">37480122</a><a href="/pmc/articles/PMC10362746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33722772">Osteogenesis imperfecta in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arshad F,
|
||
Bishop N</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2021 Jul;148:115914.
|
||
Epub 2021 Mar 17
|
||
doi: 10.1016/j.bone.2021.115914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33722772" target="_blank">33722772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32891212">Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Tofts L,
|
||
Irving M,
|
||
Wilcox W,
|
||
Bacino CA,
|
||
Hoover-Fong J,
|
||
Ullot Font R,
|
||
Harmatz P,
|
||
Rutsch F,
|
||
Bober MB,
|
||
Polgreen LE,
|
||
Ginebreda I,
|
||
Mohnike K,
|
||
Charrow J,
|
||
Hoernschemeyer D,
|
||
Ozono K,
|
||
Alanay Y,
|
||
Arundel P,
|
||
Kagami S,
|
||
Yasui N,
|
||
White KK,
|
||
Saal HM,
|
||
Leiva-Gea A,
|
||
Luna-González F,
|
||
Mochizuki H,
|
||
Basel D,
|
||
Porco DM,
|
||
Jayaram K,
|
||
Fisheleva E,
|
||
Huntsman-Labed A,
|
||
Day J</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2020 Sep 5;396(10252):684-692.
|
||
doi: 10.1016/S0140-6736(20)31541-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32891212" target="_blank">32891212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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 (63)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36425465">The Leydig cell biomarker INSL3 as a predictor of age-related morbidity: Findings from the EMAS cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ivell R,
|
||
Heng K,
|
||
Severn K,
|
||
Antonio L,
|
||
Bartfai G,
|
||
Casanueva FF,
|
||
Huhtaniemi IT,
|
||
Giwercman A,
|
||
Maggi M,
|
||
O'Connor DB,
|
||
O'Neill TW,
|
||
Punab M,
|
||
Rastrelli G,
|
||
Slowikowska-Hilczer J,
|
||
Tournoy J,
|
||
Vanderschueren D,
|
||
Wu FCW,
|
||
Anand-Ivell R</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2022;13:1016107.
|
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Epub 2022 Nov 8
|
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doi: 10.3389/fendo.2022.1016107.
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<span class="bold">PMID: </span><a href="/pubmed/36425465" target="_blank">36425465</a><a href="/pmc/articles/PMC9679513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33722772">Osteogenesis imperfecta in children.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Arshad F,
|
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Bishop N</span><br />
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<span class="medgenPMjournal">Bone</span>
|
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2021 Jul;148:115914.
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Epub 2021 Mar 17
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doi: 10.1016/j.bone.2021.115914.
|
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<span class="bold">PMID: </span><a href="/pubmed/33722772" target="_blank">33722772</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/26138850">Case Histories.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Katugampola H,
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Saraff V,
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Kumaran A,
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2015;28:319-413.
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<span class="bold">PMID: </span><a href="/pubmed/26138850" target="_blank">26138850</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25282037">Autoimmune myelofibrosis: an update on morphologic features in 29 cases and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vergara-Lluri ME,
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Piatek CI,
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Pullarkat V,
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<div class="nl"><a target="_blank" href="/pubmed/21739105">Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bradbury LA,
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Barlow S,
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Geoghegan F,
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Hannon RA,
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Stuckey SL,
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<span class="bold">PMID: </span><a href="/pubmed/21739105" target="_blank">21739105</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34003338">Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
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Misof BM,
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Laccone F,
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Blouin S,
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Roschger P,
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Kircher SG,
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Shboul M,
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Mindler GT,
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Girsch W,
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<span class="medgenPMjournal">Calcif Tissue Int</span>
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2021 Nov;109(5):586-595.
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Epub 2021 May 18
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doi: 10.1007/s00223-021-00862-z.
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||
<span class="bold">PMID: </span><a href="/pubmed/34003338" target="_blank">34003338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33477816">Focus on Osteosclerotic Progression in Primary Myelofibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spampinato M,
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Giallongo C,
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Romano A,
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Longhitano L,
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La Spina E,
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Avola R,
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Scandura G,
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Dulcamare I,
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Bramanti V,
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Di Rosa M,
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<span class="medgenPMjournal">Biomolecules</span>
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2021 Jan 19;11(1)
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doi: 10.3390/biom11010122.
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<span class="bold">PMID: </span><a href="/pubmed/33477816" target="_blank">33477816</a><a href="/pmc/articles/PMC7832894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30160216">Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sridharan K,
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2018;13(3):190-198.
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<span class="bold">PMID: </span><a href="/pubmed/30160216" target="_blank">30160216</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
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Phillipi CA,
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Steiner RD,
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Basel D</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
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<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/198844">Autosomal dominant osteosclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gelman MI</span><br />
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<span class="medgenPMjournal">Radiology</span>
|
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1977 Nov;125(2):289-96.
|
||
doi: 10.1148/125.2.289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/198844" target="_blank">198844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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 (69)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/40047985">Optimizing bone health with bisphosphonate therapies in pediatric osteogenesis imperfecta: a network meta-analysis of randomized trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang YY,
|
||
Su YC,
|
||
Lai PC,
|
||
Chou YY,
|
||
Wu PT,
|
||
Tsai MC,
|
||
Tai TW,
|
||
Wu CH,
|
||
Chang YF,
|
||
Tu YK,
|
||
Fang CJ,
|
||
Lin CJ,
|
||
Kuan FC,
|
||
Hsu KL,
|
||
Hong CK,
|
||
Su WR,
|
||
Huang MT,
|
||
Shih CA</span><br />
|
||
<span class="medgenPMjournal">Arch Osteoporos</span>
|
||
2025 Mar 6;20(1):33.
|
||
doi: 10.1007/s11657-025-01515-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40047985" target="_blank">40047985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25054949">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Jul 23;(7):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25054949" target="_blank">25054949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18843680">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillipi CA,
|
||
Remmington T,
|
||
Steiner RD</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2008 Oct 8;(4):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18843680" target="_blank">18843680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10578190">Idiopathic osteosclerosis in the jaws of Britons and of the Hong Kong Chinese: radiology and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacDonald-Jankowski DS</span><br />
|
||
<span class="medgenPMjournal">Dentomaxillofac Radiol</span>
|
||
1999 Nov;28(6):357-63.
|
||
doi: 10.1038/sj/dmfr/4600485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10578190" target="_blank">10578190</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20bone%20dysplasia%20with%20increased%20bone%20density%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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