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creatine (60) 60
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amidinotransferase (35) 35
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creatine - deficiency (33) 33
creatine - metabolism (33) 33
brain (31) 31
guanidinoacetate n-methyltransferase - genetics (31) 31
amidinotransferases - deficiency (29) 29
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guanidinoacetate methyltransferase deficiency (25) 25
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medicine, research & experimental (14) 14
plasma membrane neurotransmitter transport proteins - genetics (14) 14
transferases (14) 14
amino acid metabolism, inborn errors - genetics (13) 13
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plasma membrane neurotransmitter transport proteins - deficiency (13) 13
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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
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
Journal Article
Molecular and Cellular Proteomics, ISSN 1535-9476, 05/2015, Volume 14, Issue 5, pp. 1400 - 1410
The data-independent acquisition (DIA) approach has recently been introduced as a novel mass spectrometric method that promises to combine the high content... 
DRUG-INDUCED HEPATOTOXICITY | ACCURATE | TARGETED MASS-SPECTROMETRY | PEPTIDE IDENTIFICATION | BIOCHEMICAL RESEARCH METHODS | VALIDATION | NORMALIZATION | ABSOLUTE QUANTIFICATION | PROTEINS | DISCOVERY | Glutamate Formimidoyltransferase - metabolism | Oncogene Proteins - genetics | Glutamate Formimidoyltransferase - genetics | Proteome - genetics | Humans | Analgesics, Non-Narcotic - pharmacology | Voltage-Dependent Anion Channel 2 - genetics | Amidinotransferases - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Hepatocytes - metabolism | Peroxiredoxin VI - genetics | Peroxiredoxin VI - metabolism | Liver - drug effects | Acetaminophen - pharmacology | Proteolysis | Peroxiredoxin VI - analysis | Annexin A2 - analysis | Ammonia-Lyases - analysis | Proteomics - methods | Amidinotransferases - analysis | Oncogene Proteins - analysis | Intracellular Signaling Peptides and Proteins - genetics | Hepatocytes - drug effects | Gene Expression | Glutamate Formimidoyltransferase - analysis | Voltage-Dependent Anion Channel 2 - analysis | Ammonia-Lyases - genetics | Tissue Culture Techniques | Liver - metabolism | Intracellular Signaling Peptides and Proteins - analysis | Oncogene Proteins - metabolism | Ammonia-Lyases - metabolism | Proteome - analysis | Voltage-Dependent Anion Channel 2 - metabolism | Amidinotransferases - metabolism | Protein Deglycase DJ-1 | Annexin A2 - genetics | Annexin A2 - metabolism | Proteome - metabolism | Trypsin - chemistry | Peptides - analysis | Index Medicus | Research
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2013, Volume 109, Issue 3, pp. 260 - 268
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve and for creatine biosynthesis disorders and for... 
Creatine transporter defect | AGAT (Arginine:Glycine amidinotransferase) deficiency | GAMT (Guanidinoacetate Methyltransferase) deficiency | Cerebral creatine deficiency syndrome | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | TRANSPORTER GENE SLC6A8 | INBORN ERROR | ENZYME ASSAY | METABOLISM | AGAT DEFICIENCY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ARGININE | MUTATIONS | BRAIN | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Male | Intellectual Disability - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Membrane Transport Proteins - genetics | Amidinotransferases - blood | Amidinotransferases - chemistry | Brain Diseases, Metabolic, Inborn - genetics | Creatine - genetics | Models, Molecular | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Phenotype | Protein Conformation | Movement Disorders - genetics | Mutation | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | 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 | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - metabolism | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Guanidinoacetate N-Methyltransferase - blood | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Speech Disorders - genetics | Creatinine - urine | Syndrome | Movement Disorders - metabolism | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Mental Retardation, X-Linked - metabolism | Physiological aspects | Enzymes | Metabolites | Creatine
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 17, pp. 6623 - 6628
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
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
Neurology, ISSN 0028-3878, 11/2006, Volume 67, Issue 9, pp. 1713 - 1714
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2014, Volume 37, Issue 5, pp. 715 - 733
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | BLOOD-BRAIN-BARRIER | INBORN ERROR | SKELETAL-MUSCLE | GAMT DEFICIENCY | AGAT DEFICIENCY | PROTON NMR-SPECTROSCOPY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ARGININE-GLYCINE AMIDINOTRANSFERASE | MR SPECTROSCOPY | Brain Diseases, Metabolic, Inborn - complications | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Creatine - genetics | Mental Retardation, X-Linked - complications | Humans | Mental Retardation, X-Linked - physiopathology | Brain Diseases, Metabolic, Inborn - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Membrane Transport Proteins - deficiency | Mental Retardation, X-Linked - genetics | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Membrane Transport Proteins - genetics | Creatine - deficiency | Genetic Diseases, X-Linked - genetics | Mice | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - etiology | Brain Diseases, Metabolic, Inborn - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Creatine
Journal Article