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

Early post-transplant recurrence of oxalate nephropathy in a patient with primary hyperoxaluria type 1, despite pretransplant lumasiran therapy

(2022) Nizar Joher et al.   KIDNEY INTERNATIONAL

The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants

(2022) Marie-Noëlle Méaux et al.   PEDIATRIC NEPHROLOGY

Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1

(2022) Benedetta Chiodini et al.   Frontiers in Pediatrics

Pre-mRNA splicing factor U2AF2 recognizes distinct conformations of nucleotide variants at the center of the pre-mRNA splice site signal

(2022) Eliezra Glasser et al.   NUCLEIC ACIDS RESEARCH

Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial

(2022) Mini Michael et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Improving Treatment Options for Primary Hyperoxaluria

(2022) Bernd Hoppe et al.   DRUGS

Dual-action silver functionalized nanostructured titanium against drug resistant bacterial and fungal species

(2022) Louisa Z.Y. Huang et al.   JOURNAL OF COLLOID AND INTERFACE SCIENCE

Clinical analysis of 13 children with primary hyperoxaluria type 1

(2021) Jin-ai Lin et al.   Urolithiasis

Primary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss

(2021) Hillarey K. Stone et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Oxalic Cardiomyopathy

(2021) Alessandro Di Toro et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Perspectives in primary hyperoxaluria — historical, current and future clinical interventions

(2021) Kevin Shee et al.   Nature Reviews Urology

Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations

(2020) Fangzhou Zhao et al.   Urolithiasis

Transplantation for hyperoxaluria type 1: designing new strategies in the era of promising therapeutic perspectives

(2020) Arnaud Devresse et al.   Kidney International Reports

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

Recipient characteristics and morbidity and mortality after liver transplantation

(2018) Sumeet K. Asrani et al.   JOURNAL OF HEPATOLOGY

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

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

(2017) Ibtihel Benhaj Mbarek et al.   BMC Nephrology

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

Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones

(2016) Cui Wang et al.   Scientific Reports

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

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

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I

(2015) Elisa Oppici et al.   HUMAN MOLECULAR GENETICS

Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice

(2014) H. Hoyer-Kuhn et al.   Clinical Journal of the American Society of Nephrology

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

Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

(2014) Guo-min Li et al.   BMC Nephrology

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, 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

Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1

(2012) Krisztián Fodor et al.   PLOS BIOLOGY

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

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I

(2011) Elisa Oppici et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

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

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

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

The primary hyperoxalurias

(2009) Bernd Hoppe et al.   KIDNEY INTERNATIONAL

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results

(2008) Marion B. Coulter-Mackie et al.   CLINICAL BIOCHEMISTRY

In Vivoandin VitroExamination of Stability of Primary Hyperoxaluria-associated Human Alanine:Glyoxylate Aminotransferase

(2008) Erin D. Hopper et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Primary Hyperoxalurias

(2008) Amy E. Bobrowski et al.   SEMINARS IN NEPHROLOGY