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KMID : 0918520140140010094
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 1 p.94 ~ p.94
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Inborn Errors of Metabolism with Bony Manifestation
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Jin Dong-Kyu
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Abstract
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Skeletal dysplasias are a group of disorders of bone and/or cartilage associated with generalized skeletal abnormalities. The overall incidence is estimated to be about 1 in 5000 live births1). Currently, there are more than 400 skeletal dysplasias classified by a clinical, radiographic and molecular basis2). The genetic pathogenesis of a majority of this group are being proven as inborn errors of metabolism due to single gene defects. Of the many skeletal dysplasias, which we plan to introduce in due order in future reviews, this overview will focus on mucopolysaccharidosis. Mucopolysaccharidosis are a group of lysosomal storage disorders due to inborn errors of metabolism which show typical features of skeletal dysplasia with similarities shared between different subgroups.
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KEYWORD
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