Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria

The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre

(2015) Oliver Clifford-Mobley et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Mutations inHAO1encoding glycolate oxidase cause isolated glycolic aciduria

(2014) Yaacov Frishberg et al.   JOURNAL OF MEDICAL GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

(2014) Emma L. Williams et al.   Molecular Genetics & Genomic Medicine

Primary Hyperoxaluria

(2013) Pierre Cochat et al.   NEW ENGLAND JOURNAL OF MEDICINE

4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition

(2012) Travis J. Riedel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

(2012) Bodo B Beck et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Primary hyperoxaluria type III—a model for studying perturbations in glyoxylate metabolism

(2012) Ruth Belostotsky et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3

(2012) E. L. Williams et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

(2012) S. M. van der Hoeven et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Hyperoxaluria: a gut–kidney axis?

(2011) Stef Robijn et al.   KIDNEY INTERNATIONAL

Development and validation of a quantitative assay based on tandem mass spectrometry

(2011) J. W. Honour   ANNALS OF CLINICAL BIOCHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS