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The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

23 Dec 2009

Abstract excerpt

Patients with Niemann-Pick disease (NPD) Types A and B have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile neurological form that results in death by 3 years of age (NPD Type A) to the non-neurological form that is compatible with survival into adulthood (NPD Type B). Intermediate cases have also been reported, and the disease is...

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PMID: 20040312
DOI: 10.5414/cpp47048

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