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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
|
pubmed:dateCreated |
1990-10-26
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pubmed:abstractText |
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.
|
pubmed:language |
jpn
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0029-0831
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
381-5
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pubmed:dateRevised |
2008-12-25
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pubmed:meshHeading |
pubmed-meshheading:2400614-Child, Preschool,
pubmed-meshheading:2400614-Cholesterol,
pubmed-meshheading:2400614-Dimethyl Sulfoxide,
pubmed-meshheading:2400614-Esterification,
pubmed-meshheading:2400614-Fibroblasts,
pubmed-meshheading:2400614-Humans,
pubmed-meshheading:2400614-Male,
pubmed-meshheading:2400614-Niemann-Pick Diseases,
pubmed-meshheading:2400614-Skin,
pubmed-meshheading:2400614-Sphingomyelin Phosphodiesterase,
pubmed-meshheading:2400614-Tomography, X-Ray Computed
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pubmed:year |
1990
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pubmed:articleTitle |
[A case of type C Niemann-Pick disease].
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pubmed:affiliation |
Department of Pediatrics, Matsue Red Cross Hospital.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|