Zobrazeno 1 - 10
of 296
pro vyhledávání: '"J.T.R. Clarke"'
Autor:
G.T.N. Besley
Publikováno v:
Journal of Inherited Metabolic Disease. 20:782-782
As books on metabolic disease become more comprehensive and weightier, it is refreshing to find this user-friendly clinical guide which should suit most pockets both in size and cost. For those in training or at the fringes of metabolic disease, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7dec165e39101c8432c1b052ba25ca1
https://doi.org/10.1023/a:1005346716763
https://doi.org/10.1023/a:1005346716763
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dca9db36f7203493e314e8b9f445b4c
https://doi.org/10.1007/s10024001-0101-7
https://doi.org/10.1007/s10024001-0101-7
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d08e8ca7a79270f0f8faa464e79eda17
https://doi.org/10.1016/0955-3886(95)00057-7
https://doi.org/10.1016/0955-3886(95)00057-7
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6faaa3fdee98037c6fe0927721888df
https://pubmed.ncbi.nlm.nih.gov/20022777
https://pubmed.ncbi.nlm.nih.gov/20022777
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f6e4415ec08f0226926fdd546ebfbe1
https://doi.org/10.1016/j.ymgme.2011.11.174
https://doi.org/10.1016/j.ymgme.2011.11.174
Akademický článek
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Autor:
von Döbeln, Ulrika
Publikováno v:
Acta Paediatrica; Sep2008, Vol. 97 Issue 9, p1308-1309, 2p, 2 Color Photographs
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab19a60480b559fd7af383c75bed3854
https://doi.org/10.1016/0005-2760(76)90291-5
https://doi.org/10.1016/0005-2760(76)90291-5
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0508277acfc2ccd77f94373c3fae78b
https://doi.org/10.1203/00006450-198309000-00018
https://doi.org/10.1203/00006450-198309000-00018
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab2101e33059edca9e5ee3313ed8e26b
https://doi.org/10.1016/s0022-2275(20)38034-2
https://doi.org/10.1016/s0022-2275(20)38034-2