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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.
JAMA|January 24, 2023
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical PopulationDavid B Beck, Dale L Bodian, Vandan Shah, et al.
Pediatric Nephrology (Berlin, Germany)|January 23, 2019
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood RegistryChristine Okorn, Anne Goertz, Udo Vester, et al.
JAMA|October 12, 2000
Efficacy of 3 commonly used hearing aid circuits: A crossover trial. NIDCD/VA Hearing Aid Clinical Trial GroupV D Larson, D W Williams, W G Henderson, et al.
American Journal of Human Genetics|November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilityKarl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.
Mayo Clinic Proceedings|September 7, 2021
Clinical Heterogeneity of the VEXAS Syndrome: A Case SeriesMatthew J Koster, Taxiarchis Kourelis, Kaaren K Reichard, 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.
Cell Reports. Medicine|August 16, 2023
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXASZhijie Wu, Shouguo Gao, Qingyan Gao, et al.
Kidney International Reports|October 21, 2024
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1Lisa J Deesker, Hazal A Karacoban, Elisabeth L Metry, et al.
Kidney International|March 28, 2014
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulinArif B Ekici, Thomas Hackenbeck, Vincent Morinière, et al.
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