Article
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
American journal of nephrology - 1 Jan 2000
Monico Carla G, Olson Julie B, Milliner Dawn S
Abstract excerpt
BACKGROUND: Marked hyperoxaluria due to liver-specific deficiency of alanine:glyoxylate aminotransferase activity (AGT) characterizes type I primary hyperoxaluria (PHI). Approximately half of PHI patients experience improvement in the degree of hyperoxaluria following pyridoxine (VB6) treatment. Recently, we showed an association between VB6 response and the commonest PHI mutation G170R, with patients possessing...
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