Ewa Elenberg

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge et al. · Genetics in Medicine · 2016 · 96 citations · Full text

Developmental Anomaly, Urology, Mendelian Disorder +11

Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Craig B. Langman, Bruce A. Barshop, Georges Deschênes et al. · Kidney International · 2016 · 80 citations

Glomerulonephritis, Research Agenda, Urology +9

Management of a Severe Carbamazepine Overdose Using Albumin-Enhanced Continuous Venovenous Hemodialysis

David J. Askenazi, Stuart L. Goldstein, I‐Fen Chang et al. · PEDIATRICS · 2004 · 78 citations

Management of bone disease in cystinosis: Statement from an international conference

Katharina Hohenfellner, Frank Rauch, Gema Ariceta et al. · Journal of Inherited Metabolic Disease · 2019 · 60 citations · Full text

Osteopathy, Pathology, Surgery +19

Quality of Life is Improved and Kidney Function Preserved in Patients with Nephropathic Cystinosis Treated for 2 Years with Delayed-Release Cysteamine Bitartrate

Craig B. Langman, Larry A. Greenbaum, Paul C. Grimm et al. · The Journal of Pediatrics · 2014 · 54 citations · Full text