Evidence for Alternate Galactose Oxidation in a Patient with Deletion of the Galactose-1-Phosphate Uridyltransferase Gene

Molecular Genetics and Metabolism - Tập 72 - Trang 316-321 - 2001
Gerard T. Berry1,2, Nancy Leslie3, Robert Reynolds4, Claire T. Yager4, Stanton Segal4
1Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104
2University of Pennsylvania School of Medicine, Divisions of Human Genetics and Molecular Biology and Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104
3Division of Medical Genetics, Children's Hospital of Cincinnati, Cincinnati, Ohio
4University of Pennsylvania School of Medicine, Division of Biochemical Development and Molecular Diseases, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104

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