Project Start
1999-08-01
Project End
2001-07-31
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
7
Fiscal Year
1999
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Berry, Gerard T; Moate, Peter J; Reynolds, Robert A et al. (2004) The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab 81:22-30
Wehrli, Suzanne L; Reynolds, Robert; Chen, Jie et al. (2002) Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy. Mol Genet Metab 77:296-303
Wang, Z J; Berry, G T; Dreha, S F et al. (2001) Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Ann Neurol 50:266-9
Berry, G T; Leslie, N; Reynolds, R et al. (2001) Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Mol Genet Metab 72:316-21
Lai, K; Elsas, L J (2001) Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia. Mol Genet Metab 74:264-72
Wehrli, S L; Reynolds, R; Chen, J et al. (2001) Galactose metabolism in normal human lymphoblasts studied by (1)H, (13)C and (31)P NMR spectroscopy of extracts. NMR Biomed 14:192-8
Elsas, L J; Lai, K; Saunders, C J et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. Mol Genet Metab 72:297-305
Ning, C; Reynolds, R; Chen, J et al. (2001) Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet. Mol Genet Metab 72:306-15
Leslie, N D; Bai, S (2001) Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter. Mol Genet Metab 72:31-8
Yager, C; Gibson, J; States, B et al. (2001) Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts. J Inherit Metab Dis 24:465-76

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