Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

Author:

Metry Elisabeth L.,Garrelfs Sander F.,Deesker Lisa J.,Acquaviva Cecile,D’Ambrosio Viola,Bacchetta Justine,Beck Bodo B.,Cochat Pierre,Collard Laure,Hogan Julien,Ferraro Pietro Manuel,Franssen Casper F.M.,Harambat Jérôme,Hulton Sally-Anne,Lipkin Graham W.,Mandrile Giorgia,Martin-Higueras Cristina,Mohebbi Nilufar,Moochhala Shabbir H.,Neuhaus Thomas J.,Prikhodina Larisa,Salido Eduardo,Topaloglu Rezan,Oosterveld Michiel J.S.,Groothoff Jaap W.,Peters-Sengers Hessel

Funder

Novo Nordisk AS

Fundación DISA

Alnylam Pharmaceuticals

Publisher

Elsevier BV

Subject

Nephrology

Reference28 articles.

1. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria;Hopp;J Am Soc Nephrol,2015

2. The clinical pattern of primary hyperoxaluria in pediatric patient at Queen Rania Abdulla Children Hospital;Almardini;Arab J Nephrol Transplant,2014

3. Monogenic urinary lithiasis in Tunisian children: 25 years’ experience of a referral center;Boussetta;Tunis Med,2022

4. The human gene mutation database (HGMD®): optimizing its use in a clinical diagnostic or research setting;Stenson;Hum Genet,2020

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

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