Article
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.
Journal of inherited metabolic disease - 1 Nov 2007
Fotoulaki M, Schuchman E H, Simonaro C M, Augoustides-Savvopoulou P, Michelakakis H, Panagopoulou P, Varlamis G, Nousia-Arvanitakis S
Abstract excerpt
Niemann-Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs. The primary defect in NPD types A and B is a deficiency of lysosomal acid sphingomyelinase (ASM). We present a case of a 5-year-old boy with type B NPD...
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