Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Diez-Fernandez, Carmen, Wellauer, Olivia, Gemperle, Corinne, Rüfenacht, Véronique, Fingerhut, Ralph, Häberle, JohannesVolume:
53
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2016-103937
Date:
October, 2016
File:
PDF, 1.73 MB
english, 2016