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Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 255 - 262
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2014, Volume 37, Issue 2, pp. 231 - 236
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2014, Volume 111, Issue 1, pp. 16 - 25
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability... 
Creatine deficiency | Magnetic resonance spectroscopy | Treatment evidence | Autism | Neurodevelopmental outcome | Speech delay | MENTAL-RETARDATION | ARGININE RESTRICTION | PRESYMPTOMATIC TREATMENT | INBORN ERROR | INTELLECTUAL DISABILITY | GLOBAL DEVELOPMENTAL DELAY | METABOLISM | ORNITHINE | BRAIN | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Glycine - analogs & derivatives | Humans | Middle Aged | Movement Disorders - diagnosis | Child, Preschool | Infant | Male | Ornithine - therapeutic use | Language Development Disorders - therapy | Language Development Disorders - metabolism | Intellectual Disability - metabolism | Brain - metabolism | Young Adult | Glycine - cerebrospinal fluid | Language Development Disorders - diagnosis | Creatine - metabolism | Adult | Female | Child | Infant, Newborn | Glycine - blood | Treatment Outcome | Combined Modality Therapy | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - therapy | Movement Disorders - metabolism | Movement Disorders - therapy | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Sodium Benzoate - therapeutic use | Creatine - therapeutic use | Arginine - therapeutic use | Arginine - metabolism | Practice Guidelines as Topic | Transferases | Sodium benzoate
Journal Article
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, pp. 369 - 379
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 433 - 437
Journal Article
Journal Article