Article
Types A and B Niemann-Pick disease.
Best practice & research. Clinical endocrinology & metabolism - 1 Mar 2015
Schuchman Edward H, Wasserstein Melissa P
Abstract excerpt
Two distinct metabolic abnormalities are encompassed 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 in infancy and profound central nervous system involvement. They rarely survive beyond...
Topics
- Bone Marrow Transplantation
- Central Nervous System Diseases
- Enzyme Replacement Therapy
- Hepatomegaly
- Humans
- Lung Diseases
- Niemann-Pick Disease, Type A
- Niemann-Pick Disease, Type B
- Phenotype
- Sphingomyelin Phosphodiesterase
- Splenomegaly