Daou, Melissa; Souaid, Mirna; Yammine, Tony; Khneisser, Issam; Mansour, Hicham; Salem, Nabiha; Nemr, Antony; Awwad, Johnny T.; Moukarzel, Adib A.; Farra, Chantal G.
(John Wiley and Sons Inc, 2023)
Background: Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late-onset, ...