Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. [electronic resource]
Producer: 20160926Description: 252-9 p. digitalISSN:- 1096-7206
- 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
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Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
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