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Human Molecular Genetics, ISSN 0964-6906, 08/2013, Volume 22, Issue 16, pp. 3218 - 3226
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 03/2019, Volume 206, pp. 283 - 285
Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this... 
infant vomiting | motor delay | failure to thrive | PEDIATRICS | FAILURE | THRIVE | CHILDREN | Creatine | Medical colleges | Autism
Journal Article
Journal of Developmental and Behavioral Pediatrics, ISSN 0196-206X, 05/2016, Volume 37, Issue 4, pp. 322 - 326
Journal Article
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
Journal of Clinical Investigation, ISSN 0021-9738, 08/2012, Volume 122, Issue 8, pp. 2837 - 2846
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 01/2006, Volume 96, Issue 2, pp. 598 - 608
GABA, a major inhibitory neurotransmitter in the adult CNS, is excitatory at early developmental stages as a result of the elevated intracellular Cl –... 
brain‐type creatine kinase | co‐transporter 2 | homeostasis | glycine receptor | gramicidin‐perforated patch‐clamp technique | Cl | ATP | Brain-type creatine kinase | Gramicidin-perforated patch-clamp technique | Glycine receptor | co-transporter 2 | INTRACELLULAR CHLORIDE | ALZHEIMERS-DISEASE BRAIN | TRANSPORTER | BIOCHEMISTRY & MOLECULAR BIOLOGY | Cl- homeostasis | SPINAL-CORD | HIPPOCAMPAL-NEURONS | NEUROSCIENCES | INHIBITORY GLYCINE RECEPTOR | gramicidin-perforated patch-clamp technique | GABAERGIC RESPONSES | K+-Cl- co-transporter 2 | GABA | brain-type creatine kinase | RAT-BRAIN | ACCUMULATION | gamma-Aminobutyric Acid - metabolism | Humans | Electrophysiology | Gramicidin - pharmacology | Osmolar Concentration | Transfection | Genes, Dominant | Time Factors | Chlorides - metabolism | Symporters - antagonists & inhibitors | Neurons - physiology | Neurons - metabolism | Receptors, Glycine - metabolism | Cells, Cultured | Creatine Kinase, BB Form - antagonists & inhibitors | Rats | Mice, Inbred ICR | Symporters - metabolism | Creatine Kinase, BB Form - genetics | Patch-Clamp Techniques | Animals | Dinitrofluorobenzene - pharmacology | Creatine Kinase, BB Form - physiology | Symporters - genetics | Mice | Receptors, Glycine - genetics | Intracellular Membranes - metabolism | Neurology | Adenosine | Neurotransmitters | Biochemistry | Inhibitor drugs | Gene expression
Journal Article