Sally‐Anne Hulton

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

Markus Reichold, Anselm A. Zdebik, Evelyn Lieberer et al. · Proceedings of the National Academy of Sciences · 2010 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy

Jérôme Harambat, Karlijn J. van Stralen, Laura Espinosa et al. · Clinical Journal of the American Society of Nephrology · 2012 · 156 citations · Full text

Medicine, Nephrology, Pediatrics +11

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

Giorgia Mandrile, Christiaan S. van Woerden, Paola Berchialla et al. · Kidney International · 2014 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

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

Sander F. Garrelfs, Gill Rumsby, Hessel Peters‐Sengers et al. · Kidney International · 2019 · 101 citations · Full text

Medicine, Genetics, Nephrology +14

A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria

Bernd Höppe, Patrick Niaudet, Rémi Salomon et al. · Pediatric Nephrology · 2016 · 84 citations

Medicine, Pharmacology, Pharmacotherapy +3