Article
[Mucopolysaccharidoses].
Der Orthopade - 1 Jan 2008
Link B, Miebach E, Vetter T, Schmitt D, Beck M, Meurer A
Abstract excerpt
Mucopolysaccharidoses are a family of metabolic disorders characterized by a deficiency in the catabolic lysosomal pathways. They are rare, inherited diseases which lead to progressive cellular, tissue and organ damage across a broad spectrum of phenotypes. To prevent irreversible damage early diagnosis is essential. Typical signs and symptoms are the thoracolumbar gibbus, shortened and plumped metacarpal bones,...
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