Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

by Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
Published 2019-10-01

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.

by Fabrice Rannou, Arnaud Uguen, Virginie Scotet, Cédric Le Maréchal, Odile Rigal, Pascale Marcorelles, Eric Gobin, Jean-Luc Carré, Fabien Zagnoli, Marie-Agnès Giroux-Metges
Published 2015-01-01