Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

(2017) Oliver Clifford-Mobley et al.   PEDIATRIC NEPHROLOGY

Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III

(2017) Ada Ventzke et al.   PEDIATRIC NEPHROLOGY

Late diagnosis of primary hyperoxaluria type III

(2017) Emmanuel Richard et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria

(2016) Oliver Clifford-Mobley et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

(2015) K. Hopp et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations inHAO1encoding glycolate oxidase cause isolated glycolic aciduria

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

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

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

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

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

(2012) P. Cochat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Hyperoxaluria: a gut–kidney axis?

(2011) Stef Robijn et al.   KIDNEY INTERNATIONAL