TY  - GEN
AU  - Stockler-Ipsiroglu,Sylvia
AU  - Apatean,Delia
AU  - Battini,Roberta
AU  - DeBrosse,Suzanne
AU  - Dessoffy,Kimberley
AU  - Edvardson,Simon
AU  - Eichler,Florian
AU  - Johnston,Katherine
AU  - Koeller,David M
AU  - Nouioua,Sonia
AU  - Tazir,Meriem
AU  - Verma,Ashok
AU  - Dowling,Monica D
AU  - Wierenga,Klaas J
AU  - Wierenga,Andrea M
AU  - Zhang,Victor
AU  - Wong,Lee-Jun C
TI  - Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
SN  - 1096-7206
PY  - 2016///0926
KW  - Adolescent
KW  - Amidinotransferases
KW  - chemistry
KW  - Amino Acid Metabolism, Inborn Errors
KW  - diagnosis
KW  - Child
KW  - Child, Preschool
KW  - Creatine
KW  - deficiency
KW  - Developmental Disabilities
KW  - Female
KW  - Gene Expression
KW  - Genes, Recessive
KW  - Glycine
KW  - analogs & derivatives
KW  - Humans
KW  - Intellectual Disability
KW  - Magnetic Resonance Spectroscopy
KW  - Male
KW  - Models, Molecular
KW  - Muscular Diseases
KW  - Mutation
KW  - Protein Structure, Secondary
KW  - Protein Structure, Tertiary
KW  - Sequence Analysis, DNA
KW  - Speech Disorders
KW  - Treatment Outcome
KW  - Young Adult
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2015.10.003
ER  -