X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (43) 43
humans (40) 40
creatine (33) 33
agat (30) 30
inborn error (25) 25
animals (23) 23
brain (22) 22
arginine (21) 21
female (21) 21
male (21) 21
guanidinoacetate methyltransferase deficiency (20) 20
agat deficiency (19) 19
amidinotransferases - genetics (19) 19
gamt (19) 19
creatine - metabolism (18) 18
metabolism (18) 18
biochemistry & molecular biology (17) 17
amidinotransferases - metabolism (16) 16
creatine - deficiency (16) 16
glycine (16) 16
guanidinoacetate (16) 16
amidinotransferases - deficiency (15) 15
glycine amidinotransferase (15) 15
guanidinoacetate n-methyltransferase - genetics (15) 15
biochemistry, general (14) 14
child (14) 14
genetics & heredity (14) 14
mental-retardation (13) 13
physiological aspects (13) 13
glycine - analogs & derivatives (12) 12
child, preschool (11) 11
membrane transport proteins - genetics (11) 11
creatine - genetics (10) 10
gamt deficiency (10) 10
intellectual disability - genetics (10) 10
life sciences (10) 10
plasma membrane neurotransmitter transport proteins - genetics (10) 10
amino acids (9) 9
analysis (9) 9
arginine-glycine amidinotransferase (9) 9
brain diseases, metabolic, inborn - diagnosis (9) 9
deficiency syndromes (9) 9
guanidinoacetate n-methyltransferase - deficiency (9) 9
guanidinoacetate n-methyltransferase - metabolism (9) 9
medicine, research & experimental (9) 9
mental retardation, x-linked - genetics (9) 9
mice (9) 9
supplementation (9) 9
amino acid metabolism, inborn errors - genetics (8) 8
amino acid metabolism, inborn errors - metabolism (8) 8
brain - metabolism (8) 8
brain diseases, metabolic, inborn - genetics (8) 8
diagnosis (8) 8
endocrinology & metabolism (8) 8
glycine - urine (8) 8
guanidinoacetate methyltransferase (8) 8
infant (8) 8
magnetic resonance spectroscopy (8) 8
neurosciences (8) 8
plasma membrane neurotransmitter transport proteins - deficiency (8) 8
amidinotransferase agat deficiency (7) 7
analytical chemistry (7) 7
biochemical engineering (7) 7
clinical neurology (7) 7
creatine - blood (7) 7
creatine - urine (7) 7
developmental disabilities - genetics (7) 7
developmental disabilities - metabolism (7) 7
expression (7) 7
glycine - blood (7) 7
infant, newborn (7) 7
intellectual disability - metabolism (7) 7
language development disorders - genetics (7) 7
life sciences, general (7) 7
linked mental-retardation (7) 7
metabolites (7) 7
movement disorders - congenital (7) 7
movement disorders - genetics (7) 7
mutation (7) 7
neurobiology (7) 7
pediatrics (7) 7
proteomics (7) 7
skeletal-muscle (7) 7
slc6a8 (7) 7
speech disorders - genetics (7) 7
speech disorders - metabolism (7) 7
adolescent (6) 6
creatine deficiency (6) 6
dietary supplements (6) 6
enzymes (6) 6
guanidinoacetate n-methyltransferase (6) 6
homoarginine - blood (6) 6
membrane transport proteins - deficiency (6) 6
metabolic diseases (6) 6
methyltransferase deficiency (6) 6
rat-brain (6) 6
transferases (6) 6
transporter deficiency (6) 6
creatine - biosynthesis (5) 5
creatine supplementation (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Clinical Investigation, ISSN 0021-9738, 08/2012, Volume 122, Issue 8, pp. 2837 - 2846
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
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
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
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
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