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Erschienen in:

01.07.2015 | editorial

Osteogenesis imperfecta: from bench to bedside

verfasst von: Roland Kocijan, MD

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2015

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Excerpt

Osteogenesis imperfecta (OI) is a group of rare, inherited disorders with genetic and clinical diversities. With a prevalence of 1:10,000–1:20,000, OI is considered as an “orphan disease.” OI is caused by quantitative or qualitative defects in collagen type 1 or by proteins interacting with collagen type 1. Changes in the amount or in the structure of collagen type 1 result in high bone fragility. Therefore, OI is also known as brittle bone disease. …

Nächster Artikel Classification of osteogenesis imperfecta

Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7:540–57.PubMedCentralPubMedCrossRef

Titel: Osteogenesis imperfecta: from bench to bedside
verfasst von: Roland Kocijan, MD
Publikationsdatum: 01.07.2015
Verlag: Springer Vienna
Erschienen in: Wiener Medizinische Wochenschrift / Ausgabe 13-14/2015
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI: https://doi.org/10.1007/s10354-015-0377-2

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Bone mass and mineralization in osteogenesis imperfecta

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