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Akademický článek
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Akademický článek
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Autor:
Jakoby, William B.
Publikováno v:
AIBS Bulletin, 1960 Oct 01. 10(5), 38-38.
Externí odkaz:
https://www.jstor.org/stable/1292721
Autor:
R D Shamburek, P G Pentchev, L A Zech, J Blanchette-Mackie, E D Carstea, J M VandenBroek, P S Cooper, E B Neufeld, R D Phair, H B Brewer, Jr, R O Brady, C C Schwartz
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 12, Pp 2422-2435 (1997)
Niemann-Pick C disease (NP-C) is a rare inborn error of metabolism with hepatic involvement and neurological sequelae that usually manifest in childhood. Although in vitro studies have shown that the lysosomal distribution of LDL-derived cholesterol
Externí odkaz:
https://doaj.org/article/55306360d4814767a73496af294e7219
Autor:
Lucille Bitensky
Publikováno v:
The Journal of Pathology. 147:232-232
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df59155e75b5b1bcdfb7f6b461b925e2
https://doi.org/10.1002/path.1711470316
https://doi.org/10.1002/path.1711470316
Publikováno v:
Journal of Lipid Research, Vol 28, Iss 8, Pp 968-972 (1987)
The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined. 14C-labeled L-glucosylceramide i
Externí odkaz:
https://doaj.org/article/902d6f4e7faf4a08ba10db1613fe031e
Publikováno v:
Neurochemical research. 27(4)
Enzyme replacement therapy has been shown to be particularly effective for patients with type 1 (non-neuronopathic) Gaucher disease. However, intravenously administered glucocerebrosidase does not reverse or halt the progression of brain damage in pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9965b95625e65d5c17788dcf59dd238
https://pubmed.ncbi.nlm.nih.gov/11958535
https://pubmed.ncbi.nlm.nih.gov/11958535
Autor:
Y, Itoh, T, Esaki, M, Cook, P, Qasba, K, Shimoji, J, Alroy, R O, Brady, L, Sokoloff, D F, Moore
Publikováno v:
Journal of neurochemistry. 79(6)
Fabry disease is an X-linked lysosomal disorder characterized by deficient alpha-galactosidase A activity and intracellular accumulations of glycosphingolipids, mainly globotriaosylceramide (Gb3). Clinically, patients occasionally present CNS dysfunc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6f820c4712eeff1ead9f1b3adc6d4da
https://pubmed.ncbi.nlm.nih.gov/11752062
https://pubmed.ncbi.nlm.nih.gov/11752062
Publikováno v:
Human mutation. 15(2)
Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a031ef658dd23531322e5df21b4fbf9a
https://pubmed.ncbi.nlm.nih.gov/10649504
https://pubmed.ncbi.nlm.nih.gov/10649504
Publikováno v:
Neurochemical research. 24(2)
Gaucher disease is caused by insufficient activity of the enzyme glucocerebrosidase. Great benefit has been obtained through enzyme replacement therapy for patients with type 1 (non-neuronopathic) Gaucher disease. In contrast, inconsistent effects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6d2bd358205610b950446bf33a2cf26
https://pubmed.ncbi.nlm.nih.gov/9972879
https://pubmed.ncbi.nlm.nih.gov/9972879