Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The autosomal recessive oxalosis 2 is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the GRHPR gene.
| 1. |
Cramer SD et al. (1999) The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. 
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| 2. |
Seargeant LE et al. (1991) Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children.
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| 3. |
Van Schaftingen E et al. (1989) Coenzyme specificity of mammalian liver D-glycerate dehydrogenase.
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| 4. |
Yendt ER et al. (1985) Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.
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| 5. |
Williams HE et al. (1971) Hyperoxaluria in L-glyceric aciduria: possible pathogenic mechanism.
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| 6. |
Kemper MJ et al. (1997) Primary hyperoxaluria type 2.
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| 7. |
OMIM.ORG article Omim 260000
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