Stockler-Ipsiroglu, Sylvia

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