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hyperoxaluria
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AGXT
Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene
GRHPR
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II
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Glyoxylate and dicarboxylate metabolism
Homo sapiens (human)
2 genes
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External
A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 (ILLUMINATE-A)