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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
Journal Article
American Journal of Physiology - Heart and Circulatory Physiology, ISSN 0363-6135, 05/2013, Volume 305, Issue 4, pp. H506 - H520
Disruption of the creatine kinase (CK) system in hearts of CK-deficient mice leads to changes in the ultrastructure and regulation of mitochondrial... 
Guanidinoacetate methyltransferase | Mitochondrial positioning | Respiration and ATPase kinetics | Intracellular diffusion barriers | Creatine kinase shuttle | Confocal imaging | creatine kinase shuttle | OXIDATIVE-PHOSPHORYLATION | CARDIAC & CARDIOVASCULAR SYSTEMS | PHYSIOLOGY | mitochondrial positioning | KINASE | confocal imaging | CARDIAC-MUSCLE | guanidinoacetate methyltransferase | SARCOPLASMIC-RETICULUM | KNOCKOUT MICE | SKELETAL-MUSCLE | intracellular diffusion barriers | INCREASED SUSCEPTIBILITY | M-LINE | IN-VIVO | GLYCOLYTIC-ENZYMES | PERIPHERAL VASCULAR DISEASE | respiration and ATPase kinetics | Guanidinoacetate N-Methyltransferase - genetics | Mitochondria, Heart - pathology | Homeostasis | Male | Myocytes, Cardiac - enzymology | Adenosine Triphosphate - metabolism | Movement Disorders - enzymology | Creatine - deficiency | Female | Disease Models, Animal | Pyruvate Kinase - metabolism | Language Development Disorders - genetics | Models, Cardiovascular | Movement Disorders - pathology | Mice, Inbred C57BL | Language Development Disorders - pathology | Mitochondria, Heart - enzymology | Adenosine Triphosphatases - metabolism | Genotype | Mice, Knockout | Language Development Disorders - enzymology | Microscopy, Confocal | Myocytes, Cardiac - pathology | Phenotype | Animals | Energy Metabolism | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Creatine Kinase - metabolism | Mice | Adenosine Diphosphate - metabolism | Kinetics | Movement Disorders - genetics | Microscopy, Fluorescence | Energetics and Metabolism
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2009, Volume 51, Issue 5, pp. 404 - 407
Journal Article
Schizophrenia bulletin, ISSN 0586-7614, 1982, Volume 8, Issue 2, pp. 306 - 309
Examined serum dopamine-beta-hydroxylase (DBH) activity and thyroxine indices in 39 children and adolescents with psychiatric disorders and in 37 normal... 
Humans | Middle Aged | Thyroxine - blood | Male | Language Disorders - enzymology | Language Development Disorders - enzymology | Tourette Syndrome - enzymology | Autistic Disorder - enzymology | Adolescent | Dopamine beta-Hydroxylase - blood | Adult | Female | Thyroxine-Binding Proteins - metabolism | Aged | Child
Journal Article
Epilepsia, ISSN 0013-9580, 02/2013, Volume 54, Issue 2, pp. 217 - 227
Summary Creatine metabolism disorders include guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency, and... 
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
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 160 - 167
Journal Article