Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts

Autor: F.B. Scalco, R. Giugliani, P. Tobo, J.C. Coelho

Publikováno v: Brazilian Journal of Medical and Biological Research, Vol 32, Iss 1, p 23 (1999)

Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount of intracellular cholester

Externí odkaz: https://doaj.org/article/9d80a446a9204cd1b5f18d908f5d47c2

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DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

Autor: Forbes D. Porter, Christopher A. Wassif, F.B. Scalco, Danilo Moretti-Ferreira, Lina S. Correa-Cerro

Publikováno v: American Journal of Medical Genetics Part A. :278-281

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7921fd7caf69343958803738e233b902
https://doi.org/10.1002/ajmg.a.30810

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Autor: Regina Célia Vendramini, Iguatemy Lourenço Brunetti, Danilo Moretti-Ferreira, F.B. Scalco, V.M. Cruzes

Publikováno v: Brazilian Journal of Medical and Biological Research v.36 n.10 2003
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
Brazilian Journal of Medical and Biological Research, Vol 36, Iss 10, Pp 1327-1332 (2003)
Scopus-Elsevier
SciELO
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Journal of Medical and Biological Research, Volume: 36, Issue: 10, Pages: 1327-1332, Published: OCT 2003

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::763ced3f1501263d3ddb146bf0f6e178
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000008

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