Is there a genotype–phenotype correlation in primary hyperoxaluria type 1?
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference11 articles.
1. The primary hyperoxalurias;Leumann;J Am Soc Nephrol,2001
2. Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: single-center experience;Lorenzo;Kidney Int,2006
3. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L containing alanine:glyoxylate aminotransferase;Santana;Proc Natl Acad Sci USA,2003
4. Pyridoxine effect in type 1 primary hyperoxaluria is associated with the commonest mutant allele;Monico;Kidney Int,2005
5. Primary hyperoxaluria: genotype-phenotype correlation;Pirulli;J Nephrol,2003
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1. Case Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1;Frontiers in Pediatrics;2024-01-16
2. The real world experience of pediatric primary hyperoxaluria patients in the PEDSnet clinical research network;European Journal of Pediatrics;2023-07-01
3. Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India;Frontiers in Molecular Biosciences;2022-12-22
4. Primary hyperoxaluria type 1: report of the worldwide largest family;International Urology and Nephrology;2021-11-19
5. S2k-Leitlinie zur Diagnostik, Therapie und Metaphylaxe der Urolithiasis (AWMF 043/025);Der Urologe;2016-06-21
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