Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

by Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza
Published 2019-11-01

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

by Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso
Published 2019-07-01