The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Abstract
The level of the enzyme which catalyzes the hydrolysis of sphingomyelin has been determined in tissue samples from patients with Niemann-Pick disease and compared with tissue specimens from other human sources. It appears that the metabolic lesion In the classic infantile form of Niemann-Pick disease is attributable to a drastic attenuation or loss of activity of the enzyme which catalyzes the cleavage of sphingomyelin.

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