Zobrazeno 1 - 10
of 355
pro vyhledávání: '"Stanton Segal"'
Publikováno v:
Molecular Genetics and Metabolism. 87:92-101
To determine if classic galactosemics have residual galactose-1-phosphate uridyltransferase (GALT) activity to explain their considerable ability to oxidize galactose over 24 h, we devised a method for assessing their ability to form hepatic UDPgluco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee05ec5406bc976faa0c4f17afa4e76
https://doi.org/10.1016/j.ymgme.2005.09.012
https://doi.org/10.1016/j.ymgme.2005.09.012
Publikováno v:
Molecular Genetics and Metabolism. 84:152-159
We measured galactitol, galactonate, and galactose-1-phosphate in the red blood cell (RBC) to elucidate the biochemical phenotype of infants with a Duarte/galactosemia (D/G) genotype by isotope dilution GC/MS. The RBC galactonate, galactitol and Gal-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f318ac852e7c2170af0ac5faa447e8
https://doi.org/10.1016/j.ymgme.2004.11.001
https://doi.org/10.1016/j.ymgme.2004.11.001
Publikováno v:
Molecular Genetics and Metabolism. 82:130-136
Since patients with galactose-1-phosphate uridyltransferase (GALT) deficiency have considerable endogenous galactose formation and only limited urinary excretion of galactose metabolites, there must be mechanisms for disposal of the sugar. Otherwise,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7db803c2c565ba5f1a84a7c251e778
https://doi.org/10.1016/j.ymgme.2004.03.003
https://doi.org/10.1016/j.ymgme.2004.03.003
Publikováno v:
Molecular Genetics and Metabolism. 81:105-111
Under conditions of dietary galactose loading, mice deficient in galactose-1-phosphate uridyltransferase (GALT) accumulate large amounts of galactitol and galactonate in heart and skeletal muscle. In contrast to liver, brain, and kidney, which form l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef09a9e5f4dbe39240477e9234ec7c3c
https://doi.org/10.1016/j.ymgme.2003.10.001
https://doi.org/10.1016/j.ymgme.2003.10.001
Autor:
Raymond C. Boston, Peter J. Moate, Gerard T. Berry, Stanton Segal, Cong Ning, Claire Yager, Robert Reynolds
Publikováno v:
Molecular Genetics and Metabolism. 81:22-30
Using both a continuous infusion of isotopically labeled [1-13C]galactose with a steady-state analysis and a single injection kinetic approach, we have calculated the apparent galactose appearance rate (GAR) in patients with galactose-1-phosphate uri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff7e49b705b17f03ace5a8fc8215946
https://doi.org/10.1016/j.ymgme.2003.08.026
https://doi.org/10.1016/j.ymgme.2003.08.026