Primary hyperoxaluria type III

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Primary hyperoxaluria type III is caused by mutations in DHDPSL, which encodes a protein which could synthesize glyoxalate, and activating mutations would increase glyoxalate and then oxalate accumulation

Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, et al. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. American journal of human genetics. 2010 ;87(3):392-9.

Available from:

Philippe Campeau
Baylor College of Medicine

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