Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant

This study offers exciting therapeutic perspectives for TMEM165-CDG.PMID:38013006 | DOI:10.1016/j.trsl.2023.11.005

Source: Translational Research : the journal of laboratory and clinical medicine - November 28, 2023 Category: Laboratory Medicine Authors: Zo é Durin Alexandre Raynor Fran çois Fenaille Sophie Cholet Sandrine Vuillaumier-Barrot Jean-Meidi Alili Jo ël Poupon Nouzha Djebrani Oussedik Caroline Tuchmann-Durand Jennifer Attali Romain Touz é Thierry Dupr é Elodie Lebredonchel Marlyse Angah Ak Source Type: research