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Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients

✍ Scribed by Toshiyuki Yamamoto; Jian-Hua Feng; Katsumi Higaki; Miyako Taniguchi; Eiji Nanba; Haruaki Ninomiya; Kousaku Ohno


Book ID
114249072
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
284 KB
Volume
26
Category
Article
ISSN
0387-7604

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Sphingomyelinase activities in cultured
✍ Ryoji Minami; Yoshiki Matsuura; Fukumi Nakamura; Tooru Kudoh; Hideaki Sogawa; Ka πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 469 KB

Sphingomyelinase activity in cultured skin fibroblasts from a fetus affected with infantile-type Niemann-Pick disease was 0.5% of control activity; the activities in cells from two patients with adult-type disease (Cases 2 and 3) were 5.0% and 59.0%. Sphingomyelinase activiy was separated into three