Zobrazeno 1 - 10
of 233
pro vyhledávání: '"J.T.R. Clarke"'
Publikováno v:
Pediatric and Developmental Pathology. 4:573-579
Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine across the inner mitochondrial membrane. We report a case of CACT deficiency in a newborn who died at 72 h of age from s
Publikováno v:
Transfusion Science. 17:45-52
Gaucher disease is a hereditary disorder of glycosphingolipid metabolism caused by deficiency of lysosomal glucocerebrosidase (GBA) and characterized by accumulation of glucocerebroside in macrophages of the mononuclear phagocyte system (MPS; also ca
Autor:
Michael West, Sandra Sirrs, Daniel G. Bichet, Robin Casey, Gordon Flowerdew, J.T.R. Clarke, Kaye LeMoine, David S. Sinasac
Publikováno v:
Molecular genetics and metabolism. 99(4)
The Canadian Fabry Disease Initiative [CFDI] is a longitudinal study evaluating all Canadians diagnosed with Fabry disease [FD]. The study has 3 cohorts: Cohort 1A which includes 81 subjects who were on enzyme replacement therapy [ERT] prior to Octob
Autor:
Kaye LeMoine, Gordon Flowerdew, Michael West, Daniel Bichet, Robin Casey, J.T.R. Clarke, Sandra Sirrs
Publikováno v:
Molecular Genetics and Metabolism. 105:S64-S65
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
J.T.R. Clarke, J.M. Stoltz
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism. 441:165-169
Human serum was exposed to various amounts of [6-3H] galactosyl-(alpha1 goes to 4)-galactosyl-(beta1 goes to 4)-glucosylceramide under standardized conditions in vitro, and the uptake of the lipid by serum lipoproteins was determined. Of the bound gl
Publikováno v:
Pediatric Research. 17:770-774
Acid and neutral lipase activities of homogenized or sonicated cultured fibroblasts were examined using [2-3H]glycerol triolein, glycerol tri[1-14C]oleate or cholesterol [1-14C]oleate as substrates. In normal fibroblasts, optimal conditions for acid
Publikováno v:
Journal of Lipid Research, Vol 23, Iss 9, Pp 1292-1300 (1982)
The metabolism (chain elongation, desaturation, and incorporation into complex lipids) of thirteen different radiolabeled fatty acids and acetate was examined in N1E-115 neuroblastoma and C-6 glioma cell lines in culture. During 6-hr incubations, all
Publikováno v:
Journal of Neurochemistry. 44:1551-1558
Cultured murine neuroblastoma cells contain a neutral, Mg2+-stimulated sphingomyelinase and an alkaline phosphatidylcholine-hydrolyzing activity that are enriched in the plasma membrane fraction. The reaction products of sphingomyelin catabolism are
Publikováno v:
Journal of Biological Chemistry. 258:8595-8600
The metabolism of endogenous sphingomyelin labeled with 32P or [methyl-3H]choline and of exogenous [choline-methyl-3H], [32P]-, or [N-acyl-1-14C]sphingomyelin was studied in normal and Niemann-Pick Type A (NP-A) cultured fibroblasts. Despite a greate