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American journal of human genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 767 - 773
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Genetic Association Studies | Gene Frequency | Humans | Models, Molecular | Molecular Sequence Data | Crystallography, X-Ray | Male | Tubulin - genetics | Basal Ganglia - pathology | Sequence Analysis, DNA | Cerebellum - pathology | Magnetic Resonance Imaging | Exome - genetics | Tubulin - metabolism | Base Sequence | Female | Protein Conformation | Models, Genetic | Neurons - metabolism | Tubulin - chemistry | Index Medicus | Report
Journal Article
Annals of neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Child, Preschool | Male | White Matter - pathology | Young Adult | Exome - genetics | DNA Mutational Analysis | Leukoencephalopathies - diagnosis | Adolescent | Adult | Female | Mutation | Child | Attention Deficit Hyperactivity Disorder | Leukodystrophy | Abnormalities | Diagnostic systems | Substantia alba | Leukoencephalopathy | Patients | Index Medicus | Incidental Findings | MRI Pattern Recognition | Whole Exome Sequencing
Journal Article
Human mutation, ISSN 1059-7794, 10/2011, Volume 32, Issue 10, pp. 1153 - 1160
gene expression regulation | hyperammonemia | NAG | N‐acetyl‐L‐glutamate | Gene expression regulation | N-acetyl-L-glutamate | Hyperammonemia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Glutamates - therapeutic use | Sequence Deletion | Urea Cycle Disorders, Inborn - metabolism | Gene Frequency | Hepatocyte Nuclear Factor 1 - metabolism | Humans | Glutamates - metabolism | Treatment Outcome | Amino-Acid N-Acetyltransferase - genetics | Urea Cycle Disorders, Inborn - drug therapy | Hep G2 Cells | Sequence Alignment | Enhancer Elements, Genetic | Nucleotide Motifs | Urea Cycle Disorders, Inborn - genetics | Base Sequence | Adolescent | Alleles | Cell Line, Tumor | Female | Polymorphism, Single Nucleotide | Binding Sites | Child | Enzymes | Glutamic acid | Transcription | Liver | Regulatory sequences | Single-nucleotide polymorphism | Population genetics | Diets | Urea | Allosteric properties | Conserved sequence | Enhancers | Databases | Phosphate | Mutation | Isotopes | Biochemical markers | Index Medicus | acetylglutamate | stable isotope | urea cycle | bio-informatics
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 03/2014, Volume 111, Issue 3, pp. 393 - 398
Pelizaeus–Merzbacher | GJC2 | Glia | Leukodystrophy | Myelin | Pelizaeus-Merzbacher | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Promoter Regions, Genetic | Myelin Sheath - pathology | SOXE Transcription Factors - metabolism | Humans | Connexins - genetics | Molecular Sequence Data | Male | Connexins - metabolism | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Hereditary Central Nervous System Demyelinating Diseases - pathology | Protein Binding | Adult | Female | Mutation | Binding Sites | Child | Hereditary Central Nervous System Demyelinating Diseases - genetics | SOXE Transcription Factors - genetics | Genetic research | Genetic aspects | Index Medicus
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 2010, Volume 100, Issue Suppl 1, pp. S13 - S19
Ureagenesis | Urea cycle | Regulation | Arginine | N-carbamylglutamate | Hyperammonemia | Amino Acid Sequence | Biocatalysis | Humans | Molecular Sequence Data | Amino-Acid N-Acetyltransferase - genetics | Urea Cycle Disorders, Inborn - therapy | Amino-Acid N-Acetyltransferase - metabolism | Amino-Acid N-Acetyltransferase - chemistry | Urea Cycle Disorders, Inborn - diagnosis | Animals | Urea Cycle Disorders, Inborn - enzymology | Amino-Acid N-Acetyltransferase - deficiency | Evolution, Molecular | Index Medicus | hyperammonemia | arginine | ureagenesis | regulation | urea cycle
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 06/2012, Volume 106, Issue 2, pp. 160 - 168
N-acetylglutamate | N-acetylglutamate synthase | Urea cycle | Mouse model | N-carbamylglutamate | Hyperammonemia | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Gene Targeting | Glutamates - therapeutic use | Hyperammonemia - genetics | Breeding | Humans | Mice, Inbred C57BL | Genotype | Male | Amino-Acid N-Acetyltransferase - genetics | Amino-Acid N-Acetyltransferase - metabolism | Mice, Knockout | Hyperammonemia - drug therapy | Phenotype | Animals | Hyperammonemia - enzymology | Female | Mice | Amino-Acid N-Acetyltransferase - deficiency | Hyperammonemia - mortality | Gene Order | Disease Models, Animal | Phosphates | Urea | Arginine | Ligases | Analysis | Glutamine | Index Medicus | Drinking water | Neonates | Animal models | Weaning | Proline | Western blotting | Polymerase chain reaction | ornithine | Reproduction | L-citrulline | Genotyping | Lysine | hyperammonemia | Supplementation | citrulline | mouse model | urea cycle
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 11/2016, Volume 119, Issue 3, p. 293
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 11/2019, Volume 42, Issue 6, pp. 1088 - 1096
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, p. 767
Journal Article
PloS one, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e85597 - e85597
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Temperature | Molecular Weight | Protein Unfolding | Protein Multimerization | Embryo, Nonmammalian - metabolism | Molecular Sequence Data | Embryo, Nonmammalian - embryology | Glutamates - metabolism | Gene Expression Profiling | Amino-Acid N-Acetyltransferase - metabolism | Zebrafish - embryology | Time Factors | Biocatalysis - drug effects | Gene Expression Regulation, Developmental | Amino Acid Sequence | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | Enzyme Stability | Amino-Acid N-Acetyltransferase - genetics | Reverse Transcriptase Polymerase Chain Reaction | Amino-Acid N-Acetyltransferase - chemistry | Acetyl Coenzyme A - metabolism | Zebrafish - genetics | Sequence Homology, Amino Acid | Animals | Embryo, Nonmammalian - enzymology | Arginine - pharmacology | Zebrafish - metabolism | Glutamic Acid - metabolism | Kinetics | Zebrafish Proteins - genetics | Animal genetics | Urea | Ammonia | Arginine | Ligases | Fishes | Genes | Genomics | Physiological aspects | Genomes | Genetic aspects | Glutamate | Conservation | Arginase | Biosynthesis | Kinases | Proteins | Mitochondria | Conserved sequence | Fish | Coenzyme A | Enzymes | Wildlife conservation | Nucleotide sequence | Trout | Detoxification | Zebrafish | Argininosuccinate synthase | Citrulline | Gene expression | Waste disposal | Argininosuccinate lyase | N-Terminus | Catabolism | Ornithine | Transporter | Index Medicus
Journal Article
Scientific reports, ISSN 2045-2322, 02/2021, Volume 11, Issue 1, pp. 3580 - 3580
Journal Article
Scientific reports, ISSN 2045-2322, 10/2018, Volume 8, Issue 1, pp. 15436 - 7
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Urea Cycle Disorders, Inborn - etiology | Prognosis | Urea Cycle Disorders, Inborn - metabolism | Humans | Urea Cycle Disorders, Inborn - pathology | Hyperammonemia | Child, Preschool | Amino-Acid N-Acetyltransferase - genetics | Amino-Acid N-Acetyltransferase - metabolism | Genetic Variation | Enhancer Elements, Genetic | Base Sequence | Female | Child | Urea | Enzymes | Conserved sequence | Uniparental disomy | Regulatory sequences | Dietary intake | Gene expression | Patients | Bioinformatics | Chromosome 17 | Hereditary diseases | Index Medicus
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