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Epilepsia, ISSN 0013-9580, 02/2013, Volume 54, Issue 2, pp. 217 - 227
Creatine metabolism disorders include guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency, and the... 
Guanidinoacetate methyltransferase deficiency | Arginine:glycine amidinotransferase deficiency | Creatine transporter deficiency | Creatine | Epilepsy | MENTAL-RETARDATION | ARGININE RESTRICTION | CEREBROSPINAL-FLUID | CLINICAL NEUROLOGY | AMIDINOTRANSFERASE AGAT DEFICIENCY | GAMT DEFICIENCY | GLYCINE AMIDINOTRANSFERASE | MOUSE MODEL | TRANSPORTER DEFICIENCY | BRAIN | Developmental Disabilities - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Humans | Epilepsy - metabolism | Male | Electroencephalography | Language Development Disorders - metabolism | Epilepsy - etiology | Membrane Transport Proteins - deficiency | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Creatine - metabolism | Intellectual Disability - enzymology | Female | Disease Models, Animal | Brain Diseases, Metabolic, Inborn - complications | Amidinotransferases - deficiency | Language Development Disorders - genetics | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - drug therapy | Magnetic Resonance Imaging | Movement Disorders - metabolism | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Epilepsy - drug therapy | Speech Disorders - enzymology | Brain Diseases, Metabolic, Inborn - therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Amino Acid Metabolism, Inborn Errors - drug therapy | Neurosciences | Metabolites | Genes | Transferases | Physiological aspects | Amino acids | Seizures (Medicine) | Drug resistance | Mental illness | Brain | EEG | Mental retardation | Fever | Learning | Magnetic resonance spectroscopy | Body fluids | Reviews | Language | Encephalopathy | Development | Convulsions | Guanidinoacetate N-methyltransferase | Movement disorders | Seizures
Journal Article
Journal Article
Journal Article
Pediatric Research, ISSN 0031-3998, 03/2015, Volume 77, Issue 3, pp. 398 - 405
Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | PROTON NMR-SPECTROSCOPY | MAGNETIC-RESONANCE | PEDIATRICS | TRANSPORTER DEFICIENCY | INBORN ERROR | Developmental Disabilities - drug therapy | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Language Development Disorders - etiology | Male | Movement Disorders - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Incidence | Speech Disorders - pathology | Developmental Disabilities - pathology | Amino Acid Metabolism, Inborn Errors - genetics | Language Development Disorders - epidemiology | Brain Diseases, Metabolic, Inborn - pathology | Amino Acid Metabolism, Inborn Errors - pathology | Brain Diseases, Metabolic, Inborn - genetics | Intellectual Disability - epidemiology | Creatine - genetics | Mental Retardation, X-Linked - pathology | Creatine - biosynthesis | Intellectual Disability - pathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Developmental Disabilities - epidemiology | Speech Disorders - epidemiology | Utah - epidemiology | Brain Diseases, Metabolic, Inborn - drug therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Mental Retardation, X-Linked - epidemiology | Language Development Disorders - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Infant | Developmental Disabilities - genetics | Brain Diseases, Metabolic, Inborn - epidemiology | Creatine - blood | Creatine - physiology | Mental Retardation, X-Linked - drug therapy | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Mental Retardation, X-Linked - genetics | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy - methods | Creatine - urine | Language Development Disorders - genetics | Movement Disorders - pathology | Language Development Disorders - pathology | Speech Disorders - genetics | Intellectual Disability - drug therapy | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Sex Factors | Movement Disorders - drug therapy
Journal Article
Journal Article