A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B.
Tohoku J Exp Med, 1975/10;117(2):193-5.
Orii T, Nakamura F, Kudoh T, Tsuchihashi K, Nakao T
PMID: 174246
Impact factor: 2.547
Abstract
[Methyl-14C]sphingomyelin was synthesized by the method of Stoffel et al. (1971). A profound deficiency of sphingomyelinase activity was found in liver tissue from two sibling patients with Niemann-Pick disease type B.
MeSH terms
Adolescent; Child; Humans; Liver; Male; Niemann-Pick Diseases; Phosphoric Diester Hydrolases; Sphingomyelin Phosphodiesterase
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