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- W2040383487 abstract "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 two years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no central nervous system signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Recently, patients with phenotypes intermediate between types A and B NPD also have been identified. These individuals represent the expected continuum caused by inheriting different mutations in the ASM gene (SMPD1). Patients in the second NPD category are designated as having types C and D NPD. These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected. Impaired intracellular trafficking of cholesterol causes types C and D NPD, and two distinct gene defects have been found. In this chapter only types A and B NPD will be discussed." @default.
- W2040383487 created "2016-06-24" @default.
- W2040383487 creator A5016091950 @default.
- W2040383487 creator A5034341624 @default.
- W2040383487 date "2015-03-01" @default.
- W2040383487 modified "2023-10-16" @default.
- W2040383487 title "Types A and B Niemann-Pick disease" @default.
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- W2040383487 doi "https://doi.org/10.1016/j.beem.2014.10.002" @default.
- W2040383487 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25987176" @default.
- W2040383487 hasPublicationYear "2015" @default.
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