ArticleIndian journal of pediatrics2009
Primary hyperoxaluria type 1 with a novel mutation.
Article in Indian journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed.
- Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.Urolithiasis · 2023Article
- Primary hyperoxaluria: a case series.Journal of medical case reports · 2023Article
- Common mutation underlying primary hyperoxaluria type1 in three Indian children.Indian journal of nephrology · 2012Article
- Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutatedIndian journal of nephrologyArticle
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.
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