A compound heterozygote case of isolated sulfite oxidase deficiency

by Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre
Published 2017-09-01

Betaine anhydrous in homocystinuria: results from the RoCH registry

by Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot
Published 2019-03-01