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Pregled bibliografske jedinice broj: 73739

Osteogenesis imperfecta at the beginning of bone and joint decade

Primorac, Dragan; Rowe, David, W; Mottes, Monica; Barišić, Ingeborg; Antičević, Darko; Mirandola, Stefania; Gomez Lira, Macarena; Kalajzić, Ivo; Kušec, Vesna; Glorieux, Francis, H
Osteogenesis imperfecta at the beginning of bone and joint decade // Croatian Medical Journal, 42 (2001), 4; 393-415 (podatak o recenziji nije dostupan, pregledni rad, ostalo)

Osteogenesis imperfecta at the beginning of bone and joint decade

Primorac, Dragan ; Rowe, David, W ; Mottes, Monica ; Barišić, Ingeborg ; Antičević, Darko ; Mirandola, Stefania ; Gomez Lira, Macarena ; Kalajzić, Ivo ; Kušec, Vesna ; Glorieux, Francis, H

Croatian Medical Journal (0353-9504) 42 (2001), 4; 393-415

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, ostalo

Ključne riječi
Collagen; dentinogenesis imperfecta; gene therapy; genetics; mutation; osteogenesis imperfecta; syndrome

Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These � classic� forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well as fracture management and surgical correction of deformities observed in the patients with OI. However, ultimately, strengthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. Thus, we also describe different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.

Izvorni jezik

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita


Projekt / tema

Klinika za dječje bolesti Medicinskog fakulteta

Časopis indeksira:

  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus

Uključenost u ostale bibliografske baze podataka:

  • Excerpta Medica
  • Index Medicus