Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort

Cardiac Abnormalities in Primary Hyperoxaluria

(2010) Farouk Mookadam et al.   CIRCULATION JOURNAL

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I

(2010) B. Cellini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene

(2009) Emma L. Williams et al.   HUMAN MUTATION

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1

(2009) Sonia Fargue et al.   KIDNEY INTERNATIONAL

The primary hyperoxalurias

(2009) Bernd Hoppe et al.   KIDNEY INTERNATIONAL

Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

(2009) Jérôme Harambat et al.   KIDNEY INTERNATIONAL

Primary Hyperoxaluria: Clinical Course, Diagnosis, and Treatment After Kidney Failure

(2008) Dharmapaul L. Raju et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

(2008) M.B. Coulter-Mackie et al.   MOLECULAR GENETICS AND METABOLISM