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Osteogenesis Imperfecta: Update on presentation and management

✍ Scribed by Moira S. Cheung; Francis H. Glorieux


Publisher
Springer
Year
2008
Tongue
English
Weight
266 KB
Volume
9
Category
Article
ISSN
1389-9155

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Invited editorial comment: Osteogenesis
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During the last 4 yr the classification of osteogenesis imperfecta (01) proposed by Sillence et a1 [1979] has become widely used and forms the basis for communication among most geneticists about this heterogeneous disorder. It was recognized then that the analysis of different types was incomplete

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## Abstract Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy