Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease

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dc.contributor.authorDemirci U.
dc.contributor.authorÇizmecioglu A.
dc.contributor.authorAydogdu I.
dc.date.accessioned2024-07-22T08:10:22Z
dc.date.available2024-07-22T08:10:22Z
dc.date.issued2017
dc.description.abstractGaucher's disease (GD) is a rare disease characterized by a glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures. We wanted to present this case to raise awareness of GD's skeletal involvement and effects of late diagnosis.
dc.identifier.DOI-ID10.11138/ccmbm/2017.14.3.336
dc.identifier.issn17248914
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/15201
dc.language.isoEnglish
dc.publisherCIC Edizioni Internazionali s.r.l.
dc.rightsAll Open Access; Gold Open Access
dc.subjectantinuclear antibody
dc.subjectbisphosphonic acid derivative
dc.subjectglucosylceramidase
dc.subjectimiglucerase
dc.subjectadult
dc.subjectArticle
dc.subjectbone marrow biopsy
dc.subjectcase report
dc.subjectclinical article
dc.subjectdyspnea
dc.subjectechocardiography
dc.subjectfemale
dc.subjectfollow up
dc.subjectfracture
dc.subjectGaucher disease
dc.subjectheart ejection fraction
dc.subjecthepatomegaly
dc.subjecthuman
dc.subjectorthopnea
dc.subjectosteogenesis imperfecta
dc.subjectpancytopenia
dc.subjectparoxysmal dyspnea
dc.subjectphysical examination
dc.subjectradiography
dc.subjectserology
dc.subjectsplenomegaly
dc.titleActual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease
dc.typeArticle

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