Article
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Molecular genetics and metabolism - 1 Dec 2015
Stockler-Ipsiroglu Sylvia, Apatean Delia, Battini Roberta, DeBrosse Suzanne, Dessoffy Kimberley, Edvardson Simon, Eichler Florian, Johnston Katherine, Koeller David M, Nouioua Sonia, Tazir Meriem, Verma Ashok, Dowling Monica D, Wierenga Klaas J, Wierenga Andrea M, Zhang Victor, Wong Lee-Jun C
Abstract excerpt
BACKGROUND: Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. OBJECTIVE: We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. RESULTS: 16 patients from 8 families of 8 different ethnic backgrounds were...
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