Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

(2023) Jaap W. Groothoff et al.   Nature Reviews Nephrology

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

(2023) Qing Xin et al.   Frontiers in Genetics

Genetic assessment in primary hyperoxaluria: why it matters

(2022) Giorgia Mandrile et al.   PEDIATRIC NEPHROLOGY

The retinal phenotype in primary hyperoxaluria type 2 and 3

(2022) Johannes Birtel et al.   PEDIATRIC NEPHROLOGY

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study

(2022) Majid Alfadhel et al.   PEDIATRIC NEPHROLOGY

Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India

(2022) Arindam Chatterjee et al.   Frontiers in Molecular Biosciences

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

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

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents

(2017) Joseph T. Flynn et al.   PEDIATRICS

Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries

(2017) Jamsheer Jehangir Talati et al.   Urolithiasis

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Revised IAP growth charts for height, weight and body mass index for 5- to 18-year-old Indian children

(2015) Vaman Khadilkar et al.   INDIAN PEDIATRICS

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

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

Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria

(2015) Xiaojing Tang et al.   KIDNEY INTERNATIONAL

Ethnic differences inGRHPRmutations in patients with primary hyperoxaluria type 2

(2013) T. Takayama et al.   CLINICAL GENETICS

Primary Hyperoxaluria

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

An update on primary hyperoxaluria

(2012) Bernd Hoppe   Nature Reviews Nephrology

Notice

(2012)   Kidney International Supplements

New Equations to Estimate GFR in Children with CKD

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

The primary hyperoxalurias

(2009) Bernd Hoppe et al.   KIDNEY INTERNATIONAL