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Primary hyperoxaluria: a case series.
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Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
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The QChip1 knowledgebase and microarray for precision medicine in Qatar.
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Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.
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Frontiers in Molecular Biosciences, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
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Human Mutation, 2021
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
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Clinical Genetics, 2014
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP et al.
Human Mutation, 2003
Primary hyperoxaluria type 2 in children.
Johnson SA et al.
Pediatric Nephrology (berlin, Germany), 2002
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
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Human Genetics, 2000
Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
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