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Genetics in Medicine, ISSN 1098-3600, 02/2017, Volume 19, Issue 2, pp. 256 - 263
Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | ARGININEGLYCINE AMIDINOTRANSFERASE | neurometabolic disorders | CLINICAL-FEATURES | creatine deficiency | TANDEM MASS-SPECTROMETRY | INBORN ERROR | interpretation and reporting | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ACMG laboratory guideline | clinical biochemical genetic testing | GENETICS & HEREDITY | TRANSPORTER DEFICIENCY | Creatine - cerebrospinal fluid | Plasma Membrane Neurotransmitter Transport Proteins - blood | Intellectual Disability - cerebrospinal fluid | Mental Retardation, X-Linked - cerebrospinal fluid | Genomics | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Amidinotransferases - genetics | Intellectual Disability - urine | Plasma Membrane Neurotransmitter Transport Proteins - cerebrospinal fluid | Intellectual Disability - blood | Amidinotransferases - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - genetics | Guanidinoacetate N-Methyltransferase - urine | Amidinotransferases - blood | Developmental Disabilities - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - genetics | Speech Disorders - blood | Repressor Proteins - urine | Language Development Disorders - cerebrospinal fluid | Creatine - genetics | Genetic Testing - standards | Mental Retardation, X-Linked - blood | Brain Diseases, Metabolic, Inborn - cerebrospinal fluid | Repressor Proteins - genetics | Movement Disorders - blood | Amino Acid Metabolism, Inborn Errors - blood | Developmental Disabilities - urine | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Amidinotransferases - urine | Movement Disorders - genetics | Speech Disorders - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - blood | Developmental Disabilities - blood | Mental Retardation, X-Linked - urine | Guidelines as Topic | Language Development Disorders - blood | Genetics, Medical - standards | Guanidinoacetate N-Methyltransferase - genetics | Movement Disorders - urine | Developmental Disabilities - genetics | Creatine - blood | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Guanidinoacetate N-Methyltransferase - cerebrospinal fluid | Speech Disorders - urine | Amino Acid Metabolism, Inborn Errors - urine | Creatine - metabolism | Creatine - deficiency | Guanidinoacetate N-Methyltransferase - blood | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Movement Disorders - cerebrospinal fluid | Creatine - urine | Language Development Disorders - genetics | Brain Diseases, Metabolic, Inborn - urine | Repressor Proteins - blood | Speech Disorders - genetics | Language Development Disorders - urine | Plasma Membrane Neurotransmitter Transport Proteins - urine | Repressor Proteins - cerebrospinal fluid | Clinical Laboratory Techniques - methods | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Index Medicus
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 | 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
Clinica Chimica Acta, ISSN 0009-8981, 09/2014, Volume 436, pp. 160 - 168
To develop an accurate stable isotope dilution assay for simultaneous quantification of creatine metabolites ornithine, arginine, creatine, creatinine, and... 
Stable isotope dilution | Tandem mass spectrometry | Creatine deficiency syndromes | Mouse models | Creatine metabolites | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | DIAGNOSIS | TANDEM MASS-SPECTROMETRY | CHROMATOGRAPHY | GC-MS | TRANSPORT | GAMT DEFICIENCY | AMIDINOTRANSFERASE | CLINICAL-CHEMISTRY | URINE | MEDICAL LABORATORY TECHNOLOGY | Developmental Disabilities - blood | Language Development Disorders - blood | Developmental Disabilities - metabolism | Humans | Language Development Disorders - metabolism | Creatine - blood | Intellectual Disability - metabolism | Intellectual Disability - blood | Isotopes - chemistry | Tandem Mass Spectrometry | Amino Acid Metabolism, Inborn Errors - metabolism | Plasma - metabolism | Dried Blood Spot Testing - methods | Amidinotransferases - blood | Creatine - metabolism | Chromatography, Liquid | Creatine - deficiency | Guanidinoacetate N-Methyltransferase - blood | Speech Disorders - blood | Disease Models, Animal | Speech Disorders - metabolism | Amidinotransferases - deficiency | Limit of Detection | Reproducibility of Results | Linear Models | Guanidinoacetate N-Methyltransferase - metabolism | Movement Disorders - blood | Amidinotransferases - metabolism | Amino Acid Metabolism, Inborn Errors - blood | Movement Disorders - metabolism | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Mice | Metabolites | Creatine | Models | Index Medicus
Journal Article
Journal Article
Journal Article
Journal of the American Heart Association, ISSN 2047-9980, 04/2016, Volume 5, Issue 4, pp. e002565 - n/a
Journal Article
JOURNAL OF NUTRITION, ISSN 0022-3166, 10/2015, Volume 145, Issue 10, pp. 2245 - 2252
Journal Article
Journal Article
Transplantation, ISSN 0041-1337, 2015, Volume 99, Issue 7, pp. 1470 - 1476
Journal Article
Amino Acids, ISSN 0939-4451, 12/2017, Volume 49, Issue 12, pp. 2033 - 2044
l-Homoarginine (hArg) and guanidinoacetate (GAA) are produced from l-arginine (Arg) by the catalytic action of arginine:glycine amidinotransferase.... 
Biochemistry, general | Cardiomyopathy | Homoarginine | Neurobiology | Metabolism | Life Sciences | Analytical Chemistry | Life Sciences, general | Biochemical Engineering | Proteomics | Cardiovascular risk | Distribution | Mass spectrometry | GAS CHROMATOGRAPHY/MASS SPECTROMETRY | OXIDATIVE STRESS | NITRIC-OXIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOLOGICAL SAMPLES | MS MEASUREMENT | SUPPLEMENTATION | GLYCINE-AMIDINOTRANSFERASE DEFICIENCY | L-ARGININE | GC-MS/MS | Glycine - analogs & derivatives | Glycine - metabolism | Homoarginine - administration & dosage | Humans | Half-Life | Arginine - analogs & derivatives | Tissue Distribution | Kidney - metabolism | Malondialdehyde - blood | Lipid Peroxidation - drug effects | Guanidinoacetate N-Methyltransferase | Models, Animal | Amidinotransferases - analysis | Takotsubo Cardiomyopathy - metabolism | Glycine - blood | Kidney - drug effects | Rats | Homoarginine - blood | Homoarginine - metabolism | Rats, Sprague-Dawley | Pilot Projects | Animals | Arginine - blood | Nitric Oxide Synthase | Homoarginine - pharmacokinetics | Arginine - metabolism | Metabolites | Proteolysis | Nitric oxide | Physiological aspects | Amino acids | Methylation | Heart | Syngeneic grafts | Body weight | Guanidine | Liver | Lipid peroxidation | Fuel consumption | Creatine | Glycine | Proteins | Arginine | Rodents | Catalysis | Urine | Creatinine | Kidneys | Organs | Glycine amidinotransferase | Pharmacology | Saline solutions | Malondialdehyde | Nitric-oxide synthase | Studies | Biomarkers | Guanidinoacetate N-methyltransferase | Kidney transplantation | Index Medicus
Journal Article