Abstract:We diagnosed a 3-year-old boy as type C Niemann-Pick disease by studies on cultured fibroblasts; sphingomyelinase activity was almost normal, but esterification of exogenously administered cholesterol...We diagnosed a 3-year-old boy as type C Niemann-Pick disease by studies on cultured fibroblasts; sphingomyelinase activity was almost normal, but esterification of exogenously administered cholesterol was deficient. Also sparse cultures of his fibroblasts developed a relatively intense fluorescence with filipin that was not observed either in normal or type B Niemann-Pick fibroblasts. We tried to treat him with dimethylsulfoxide (DMSO), 100 mg-120 mg/day for a year, but it had clinically insufficient effect on our case.Read More
Publication Year: 1990
Publication Date: 1990-07-01
Language: en
Type: article
Indexed In: ['pubmed']
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Cited By Count: 4
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