citrullinemia type 1

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Carmen Diez-Fernandez, Olivia Wellauer, Corinne Gemperle, Véronique Rüfenacht, Ralph Fingerhut, Johannes Häberle

Journal of Medical Genetics Oct 2016, 53 (10) 710-719; DOI: 10.1136/jmedgenet-2016-103937

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citrullinemia type 1