Article
Types A and B Niemann-Pick Disease.
Pediatric endocrinology reviews : PER - 1 Jun 2016
Schuchman Edward H, Wasserstein Melissa P
Abstract excerpt
Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections, and profound central nervous system involvement in infancy....
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