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

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Human UDP-Galactose 4' Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients with Epimerase-Deficiency Galactosemia

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Human pheochromocytomas show reduced p27Kip1 expression that is not associated with somatic gene mutations and rarely with deletions

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Molecular Basis of Hyperargininemia: Structure-Function Consequences of Mutations in Human Liver Arginase

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