Article
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
Pediatrics - 1 Dec 2004
Wasserstein Melissa P, Desnick Robert J, Schuchman Edward H, Hossain Sabera, Wallenstein Sylvan, Lamm Carin, McGovern Margaret M
Abstract excerpt
OBJECTIVES: Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences...
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