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Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2015, Volume 116, Issue 4, pp. 252 - 259
Arginine:glycine aminotransferase (AGAT) ( ) deficiency is an autosomal recessive inborn error of creative synthesis. We performed an international survey... 
GATM | Cerebral creatine deficiency | Intellectual disability | Myopathy | MEDICINE, RESEARCH & EXPERIMENTAL | INBORN ERROR | METABOLISM | HOMOARGININE | ARGININE/GLYCINE AMIDINOTRANSFERASE | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CREATINE DEFICIENCY | BRAIN | Glycine - analogs & derivatives | Developmental Disabilities - drug therapy | Speech Disorders - drug therapy | Amino Acid Metabolism, Inborn Errors - physiopathology | Glycine - urine | Humans | Child, Preschool | Amidinotransferases - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Young Adult | Amino Acid Metabolism, Inborn Errors - genetics | Muscular Diseases - physiopathology | Muscular Diseases - drug therapy | Glycine - deficiency | Creatine - deficiency | Female | Amidinotransferases - chemistry | Child | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Protein Structure, Tertiary | Developmental Disabilities - physiopathology | Glycine - blood | Amidinotransferases - deficiency | Gene Expression | Magnetic Resonance Spectroscopy | Protein Structure, Secondary | Speech Disorders - genetics | Models, Molecular | Treatment Outcome | Genes, Recessive | Sequence Analysis, DNA | Speech Disorders - physiopathology | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Muscular Diseases - diagnosis | Intellectual Disability - diagnosis | Adolescent | Creatine - therapeutic use | Muscular Diseases - genetics | Mutation | Amino Acid Metabolism, Inborn Errors - drug therapy | Arginine | Glycine
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Journal Article
Journal Article
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
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
Amino Acids, ISSN 0939-4451, 9/2015, Volume 47, Issue 9, pp. 1893 - 1908
Asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of nitric oxide (NO) synthesis, whereas l-arginine (Arg) and l-homoarginine (hArg) serve as... 
Biochemistry, general | N G -Methyltransferases | Homoarginine | Neurobiology | ADMA | Life Sciences | Analytical Chemistry | Life Sciences, general | Arginine | Biochemical Engineering | Proteomics | Knockout mouse | SAM | Methyltransferases | N | RAT-LIVER | LIVER AMIDINOTRANSFERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEART-FAILURE | SYMMETRIC DIMETHYLARGININE | CREATINE | SUBSTRATE-SPECIFICITY | PLASMA | GLYCINE AMIDINOTRANSFERASE | NITRIC-OXIDE | N-G-Methyltransferases | CARDIOVASCULAR RISK | Developmental Disabilities - blood | Developmental Disabilities - drug therapy | Language Development Disorders - blood | Language Development Disorders - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Humans | Middle Aged | Amidinotransferases - genetics | Male | Developmental Disabilities - genetics | Coronary Artery Disease - blood | Arginine - analogs & derivatives | Arginine - administration & dosage | Intellectual Disability - genetics | Intellectual Disability - blood | Amino Acid Metabolism, Inborn Errors - genetics | Peripheral Arterial Disease - genetics | Amidinotransferases - blood | Peripheral Arterial Disease - blood | Adult | Female | Child | Guanidinoacetate N-Methyltransferase - blood | Speech Disorders - blood | Amidinotransferases - deficiency | Language Development Disorders - genetics | Peripheral Arterial Disease - drug therapy | Speech Disorders - genetics | Coronary Artery Disease - drug therapy | Guanidinoacetate N-Methyltransferase - metabolism | Movement Disorders - blood | Amidinotransferases - metabolism | Amino Acid Metabolism, Inborn Errors - blood | Mice, Knockout | Intellectual Disability - drug therapy | Animals | Homoarginine - biosynthesis | Arginine - biosynthesis | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Coronary Artery Disease - genetics | Mice | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Movement Disorders - drug therapy | Analysis | Nitric oxide | Transferases | Resveratrol | Physiological aspects | Biosynthesis | Chemical properties | Methylation | Index Medicus | Human | Proteins | Synthesis | Asymmetry | Coronary artery disease | Patients | Ingestion
Journal Article