Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. [electronic resource]
- Molecular genetics and metabolism Dec 2015
- 252-9 p. digital
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2015.10.003 doi
Adolescent Amidinotransferases--chemistry Amino Acid Metabolism, Inborn Errors--diagnosis Child Child, Preschool Creatine--deficiency Developmental Disabilities--diagnosis Female Gene Expression Genes, Recessive Glycine--analogs & derivatives Humans Intellectual Disability--diagnosis Magnetic Resonance Spectroscopy Male Models, Molecular Muscular Diseases--diagnosis Mutation Protein Structure, Secondary Protein Structure, Tertiary Sequence Analysis, DNA Speech Disorders--diagnosis Treatment Outcome Young Adult