Case Reports
doi: 10.1620/tjem.117.193.
A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B
- PMID: 174246
- DOI: 10.1620/tjem.117.193
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Case Reports
A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B
Tohoku J Exp Med.
1975 Oct.
Free article
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.
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