Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation-Reference-Cited by-同舟云学术

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Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

Published:2020-06 Issue:6 Volume:5 Page:955-958
ISSN:2468-0249
Container-title:Kidney International Reports
language:en
Short-container-title:Kidney International Reports

Author:

Singh Prince,Chebib Fouad T.,Cogal Andrea G.,Gavrilov Dimitar K.,Harris Peter C.,Lieske John C.

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Elsevier BV

Subject

Nephrology

Reference9 articles.

1. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment;Danpure;Am J Nephrol,2005

2. Molecular insights into primary hyperoxaluria type 1 pathogenesis;Cellini;Front Biosci (Landmark Ed),2012

3. Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1;Fargue;Biochim Biophys Acta,2013

4. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele;Fargue;J Biol Chem,2013

5. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations;Lumb;J Biol Chem,2000

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4. Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis;World Journal of Urology;2024-04-12

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