H. A. Repetto

Globotriaosylceramide (GL-3) Accumulation in the Renal Biopsy of a 1-year-old Patient with Fabry Disease and Ureteropelvic Junction Obstruction

D. Ripeau, F. Masllorens, N. Lago, H. Amartino, J. I. Bortagaray & H. A. Repetto · Journal of Advances in Medicine and Medical Research · 2016

Introduction: Fabry disease is a x-chromosome hereditary disease with an incidence of 1/40000 newborns. Nowadays it presents as much in males as in females and its first clinical symptoms are seen in pediatric patients. Patients have reduced or no activity of alpha-galactosidase...