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index medicus (222) 222
humans (145) 145
animals (116) 116
creatine (103) 103
male (95) 95
guanidinoacetate n-methyltransferase (93) 93
metabolism (90) 90
glycine - analogs & derivatives (75) 75
female (74) 74
brain (73) 73
inborn error (73) 73
creatine - metabolism (69) 69
guanidinoacetate n-methyltransferase - deficiency (69) 69
biochemistry & molecular biology (68) 68
guanidinoacetate n-methyltransferase - genetics (64) 64
guanidinoacetate n-methyltransferase - metabolism (58) 58
guanidinoacetate (57) 57
rats (54) 54
creatine - deficiency (48) 48
mice (44) 44
guanidinoacetate methyltransferase deficiency (43) 43
transferases (43) 43
genetics & heredity (40) 40
child, preschool (38) 38
arginine (36) 36
child (36) 36
methyltransferases - deficiency (36) 36
physiological aspects (35) 35
glycine - metabolism (34) 34
methyltransferases - metabolism (34) 34
gamt deficiency (33) 33
amidinotransferases - genetics (32) 32
movement disorders - congenital (32) 32
methyltransferases - genetics (31) 31
creatine - biosynthesis (30) 30
creatine deficiency (30) 30
glycine - blood (30) 30
guanidinoacetate methyltransferase (30) 30
neurosciences (28) 28
amidinotransferases - metabolism (27) 27
brain - metabolism (27) 27
creatine - blood (27) 27
mutation (26) 26
gamt (25) 25
magnetic resonance spectroscopy (25) 25
adult (24) 24
infant (24) 24
liver - enzymology (24) 24
medicine, research & experimental (24) 24
analysis (23) 23
biochemistry, general (23) 23
diagnosis (23) 23
liver (23) 23
s-adenosylmethionine (23) 23
glycine amidinotransferase (22) 22
pediatrics (22) 22
amidinotransferases - deficiency (21) 21
amino acids (21) 21
glycine (21) 21
movement disorders - genetics (21) 21
clinical neurology (20) 20
enzymes (20) 20
urine (20) 20
expression (19) 19
language development disorders - genetics (19) 19
membrane transport proteins - genetics (19) 19
mental-retardation (19) 19
rats, wistar (19) 19
creatine - therapeutic use (18) 18
dietary supplements (18) 18
endocrinology & metabolism (18) 18
infant, newborn (18) 18
life sciences (18) 18
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neurology (17) 17
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energy metabolism (16) 16
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creatine - administration & dosage (15) 15
creatinine - blood (15) 15
deficiency (15) 15
epilepsy (15) 15
language development disorders - diagnosis (15) 15
methyltransferase (15) 15
methyltransferase deficiency (15) 15
mice, inbred c57bl (15) 15
molecular sequence data (15) 15
agat (14) 14
amino acid sequence (14) 14
base sequence (14) 14
creatine - urine (14) 14
creatinine - metabolism (14) 14
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Journal of Biological Chemistry, ISSN 0021-9258, 01/2012, Volume 287, Issue 2, pp. 1361 - 1370
Journal Article
BBA - Proteins and Proteomics, ISSN 1570-9639, 2009, Volume 1794, Issue 12, pp. 1831 - 1837
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2014, Volume 111, Issue 1, pp. 16 - 25
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability... 
Creatine deficiency | Magnetic resonance spectroscopy | Treatment evidence | Autism | Neurodevelopmental outcome | Speech delay | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | ARGININE RESTRICTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PRESYMPTOMATIC TREATMENT | INBORN ERROR | INTELLECTUAL DISABILITY | GLOBAL DEVELOPMENTAL DELAY | METABOLISM | ORNITHINE | GENETICS & HEREDITY | BRAIN | Glycine - analogs & derivatives | Humans | Middle Aged | Movement Disorders - diagnosis | Child, Preschool | Infant | Male | Ornithine - therapeutic use | Language Development Disorders - therapy | Language Development Disorders - metabolism | Intellectual Disability - metabolism | Brain - metabolism | Young Adult | Glycine - cerebrospinal fluid | Language Development Disorders - diagnosis | Creatine - metabolism | Adult | Female | Child | Infant, Newborn | Glycine - blood | Treatment Outcome | Combined Modality Therapy | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - therapy | Movement Disorders - metabolism | Movement Disorders - therapy | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Sodium Benzoate - therapeutic use | Creatine - therapeutic use | Arginine - therapeutic use | Arginine - metabolism | Practice Guidelines as Topic | Transferases | Sodium benzoate | Index Medicus
Journal Article
Molecular Cell, ISSN 1097-2765, 11/2009, Volume 36, Issue 3, pp. 379 - 392
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2009, Volume 37, Issue 2, pp. 423 - 433
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 10/2010, Volume 32, Issue 8, pp. 1326 - 1336
Neuronal cell bodies are associated with glial cells collectively referred to as perineuronal satellite cells. One such satellite cell is the perineuronal... 
Developmental neurobiology | Glutamatergic systems | Cerebral cortex | Oligodendrocyte | Glia | oligodendrocyte | L-SERINE | SPINAL-CORD | GLIAL-CELLS | glia | NEUROSCIENCES | PROSTAGLANDIN-D SYNTHASE | CREATINE DEFICIENCY SYNDROMES | cerebral cortex | glutamatergic systems | 3-PHOSPHOGLYCERATE DEHYDROGENASE | SATELLITE OLIGODENDROCYTES | GLUTAMINE-SYNTHETASE | developmental neurobiology | CENTRAL-NERVOUS-SYSTEM | BRAIN | Immunohistochemistry | Oligodendroglia - metabolism | In Situ Hybridization, Fluorescence | Neurons - cytology | 2',3'-Cyclic-Nucleotide Phosphodiesterases - metabolism | Glial Fibrillary Acidic Protein - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Cerebral Cortex - cytology | Blotting, Western | Cerebral Cortex - metabolism | Animals | Glutamic Acid - metabolism | Mice | Neurons - metabolism | Oligodendroglia - cytology | Cell research | Neurosciences | Neurons | Cytochemistry | Glutamate | Creatine | S-adenosylmethionine | Ligases | Analysis | GABA | Universities and colleges | Intermediate filament proteins | Protein binding | Glutamine | Index Medicus | Enzymes | Interneurons | g-Aminobutyric acid | Astrocytes | Glial fibrillary acidic protein | Cortex | Lipids | Nervous system | Glial cells | Nucleotides | dehydrogenase | Neuronal-glial interactions | Microglia | Synaptic transmission | Microtubule-associated protein 2 | N-Methyltransferase | Oligodendrocytes | L-Serine | Glutamic acid transporter | Cell body | Glutamate-ammonia ligase | satellite cells
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 | Index Medicus
Journal Article