A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function

(2020) Philip Hillebrand et al.   PEDIATRIC NEPHROLOGY

Plasma oxalate: comparison of methodologies

(2020) Felicity Stokes et al.   Urolithiasis

Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children

(2019) Xiaoliang Fang et al.   PEDIATRIC NEPHROLOGY

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

(2019) Sander F. Garrelfs et al.   KIDNEY INTERNATIONAL

Metabolite diagnosis of primary hyperoxaluria type 3

(2018) Lawrence Greed et al.   PEDIATRIC NEPHROLOGY

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

(2018) Lei He et al.   WORLD JOURNAL OF UROLOGY

Recent advances in the identification and management of inherited hyperoxalurias

(2018) David J. Sas et al.   Urolithiasis

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

(2017) Ada Ventzke et al.   PEDIATRIC NEPHROLOGY

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK

(2017) Naomi Issler et al.   BMC Nephrology

Late diagnosis of primary hyperoxaluria type III

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

The primary hyperoxalurias: A practical approach to diagnosis and treatment

(2016) Sally-Anne Hulton   International Journal of Surgery

Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3

(2015) Xinsheng Wang et al.   AMERICAN JOURNAL OF NEPHROLOGY

Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure

(2015) F. Zhao et al.   Clinical Journal of the American Society of Nephrology

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

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

Renal function can be impaired in children with primary hyperoxaluria type 3

(2015) Lise Allard et al.   PEDIATRIC NEPHROLOGY

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

A New Equation to Estimate Glomerular Filtration Rate

(2013) Andrew S. Levey et al.   ANNALS OF INTERNAL MEDICINE

Primary Hyperoxaluria

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

Extracorporal shock wave lithotripsy in the management of stones in children with oxalosis—still the first choice?

(2013) Eslam Al-Abadi et al.   PEDIATRIC NEPHROLOGY

Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt

(2013) Dorrit E. Jacob et al.   PLoS One

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

An update on primary hyperoxaluria

(2012) Bernd Hoppe   Nature Reviews Nephrology

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: indications for screening and guidance for diagnosis and treatment

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

Primary hyperoxaluria type 3 in children with renal calculi

(2011) E. Williams et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

(2011) C. G. Monico et al.   Clinical Journal of the American Society of Nephrology

Net Intestinal Transport of Oxalate Reflects Passive Absorption and SLC26A6-mediated Secretion

(2011) F. Knauf et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Nephrocalcinosis and urolithiasis in children

(2011) Sandra Habbig et al.   KIDNEY INTERNATIONAL

Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria

(2011) Travis J. Riedel et al.   PLoS One

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

(2010) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New Equations to Estimate GFR in Children with CKD

(2009) G. J. Schwartz et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY