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

An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria

(2016) Abigail Liebow et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria

(2015) Xiaojing Tang et al.   KIDNEY INTERNATIONAL

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

(2014) Giorgia Mandrile et al.   KIDNEY INTERNATIONAL

Ethnic differences inGRHPRmutations in patients with primary hyperoxaluria type 2

(2013) T. Takayama et al.   CLINICAL GENETICS

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 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

Ayurvedic medicine and NADPH oxidase: a possible approach to the prevention of ESRD in hyperoxaluria

(2011) G. Gambaro et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration

(2010) M. T. P. Perera et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

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

Late diagnosis of primary hyperoxaluria after failed kidney transplantation

(2009) Goce Spasovski et al.   INTERNATIONAL UROLOGY AND NEPHROLOGY

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

Calcium oxalate crystals in the bone marrow

(2008) Raihan Sajid et al.   BRITISH JOURNAL OF HAEMATOLOGY

Consanguinity and its relevance to clinical genetics

(2003) AH Bittles   CLINICAL GENETICS