Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide-Reference-Cited by-同舟云学术

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Published:2015-12 Issue:4 Volume:116 Page:252-259
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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.

Funder

BC Children's Hospital Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans;Item;Am. J. Hum. Genet.,2001

2. Creatine disorders;Stockler,2014

3. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree;Battini;Mol. Genet. Metab.,2002

4. Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency;Ndika;Mol. Genet. Metab.,2012

5. l-Arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation;Edvardson;Mol. Genet. Metab.,2010

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