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Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | 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 | Index Medicus | Life Sciences
Journal Article
The Journal of physiology, ISSN 0022-3751, 2013, Volume 591, Issue 2, pp. 571 - 592
Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Speech Disorders - diet therapy | Developmental Disabilities - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Amidinotransferases - genetics | Muscle, Skeletal - metabolism | Amino Acid Metabolism, Inborn Errors - diet therapy | Muscle Fibers, Skeletal - metabolism | Mitochondria - ultrastructure | Intellectual Disability - metabolism | Proton-Translocating ATPases - metabolism | Speech Disorders - pathology | Amino Acid Metabolism, Inborn Errors - metabolism | Developmental Disabilities - pathology | Adenosine Triphosphate - metabolism | Creatine - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - diet therapy | Hand Strength | Developmental Disabilities - physiopathology | Speech Disorders - metabolism | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy | Intellectual Disability - pathology | Ischemia - metabolism | Lipid Metabolism | Muscular Atrophy - genetics | Mitochondria - metabolism | Amidinotransferases - metabolism | Speech Disorders - physiopathology | Mice, Knockout | Intellectual Disability - physiopathology | Phosphates - metabolism | Animals | Energy Metabolism | Muscle, Skeletal - physiopathology | Hindlimb - pathology | Muscle Fibers, Skeletal - pathology | Creatine Kinase - metabolism | Creatine - therapeutic use | Mice | Muscle, Skeletal - pathology | Developmental Disabilities - diet therapy | Hydrogen-Ion Concentration | Physiological aspects | Creatine | Homeostasis | Enzymes | Musculoskeletal system | Biosynthesis | Metabolism | Morphology | Index Medicus | Skeletal Muscle and Exercise
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
neurotransmitter deficiency | tetrahydrobiopterin | dystonia | DNAJC12 | phenylketonuria | hyperphenylalaninemia | newborn screening | BH4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Allelomorphism | Genetic aspects | Dystonia | Gene mutations | Health aspects | Mental retardation | Phenylketonuria | Physiological aspects | Research | Risk factors | Mutation | Medical screening | Intellectual disabilities | Medical disorders | Genes | Neurological disorders | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation | Index Medicus
Journal Article
Annual review of genetics, ISSN 0066-4197, 12/2011, Volume 45, Issue 1, pp. 81 - 104
mental retardation | synaptic plasticity | chromatin modification | cytoskeleton | therapy | autism | Autism | Therapy | Cytoskeleton | Mental retardation | Synaptic plasticity | Chromatin modification | Autistic Disorder - genetics | Autistic Disorder - metabolism | Signal Transduction | Chromosomes, Human - genetics | Epigenesis, Genetic | Humans | Genetic Diseases, Inborn - genetics | Spine - metabolism | Cognition Disorders - metabolism | Cognition Disorders - genetics | Chromosomes, Human - metabolism | Gene Regulatory Networks | Intellectual Disability - genetics | Intellectual Disability - metabolism | Intellectual Disability - therapy | Synapses - metabolism | Chromosome Aberrations | Cytoskeletal Proteins - metabolism | Transcription, Genetic | Genetic Diseases, Inborn - metabolism | Cognition Disorders - therapy | Mutation | Genes | Physiological aspects | Genetic aspects | Research | Cognition disorders | Diagnosis | Risk factors | Epigenetics | Signal transduction | Mental disorders | Molecular structure | Index Medicus
Journal Article