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Nature Reviews. Nephrology|January 5, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEuropeJaap W Groothoff, Ella Metry, Lisa Deesker, et al.
Kidney International Reports|February 14, 2022
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) RegistryElisabeth L Metry, Sander F Garrelfs, Hessel Peters-Sengers, et al.
World Journal of Urology|April 22, 2025
SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathwayBhaskar Somani, Esteban Emiliani, Thomas Knoll, et al.
Kidney International Reports|October 18, 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria ConsortiumElisabeth L Metry, Sander F Garrelfs, Lisa J Deesker, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
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