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Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 598 - 613
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis | Index Medicus
Journal Article
Clinics in liver disease, ISSN 1089-3261, 11/2018, Volume 22, Issue 4, pp. 671 - 687
Cirrhosis | Zellweger spectrum disorder | Neonatal cholestasis | Liver | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Liver Diseases - pathology | Bile Acids and Salts - metabolism | Adrenal Hyperplasia, Congenital - complications | Adrenal Hyperplasia, Congenital - genetics | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Acyl-CoA Oxidase - deficiency | Metabolism, Inborn Errors - genetics | Cholic Acid - therapeutic use | Metabolism, Inborn Errors - diagnosis | Cholestasis - etiology | Xanthomatosis, Cerebrotendinous - genetics | Liver Diseases - etiology | Racemases and Epimerases - deficiency | Steroid Hydroxylases - deficiency | Xanthomatosis, Cerebrotendinous - complications | Amino-Acid N-Acetyltransferase - deficiency | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - complications
Journal Article
Developmental medicine and child neurology, ISSN 0012-1622, 01/2013, Volume 55, Issue 1, pp. 23 - 36
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Age Factors | Humans | Pyridoxine - therapeutic use | Ubiquinone - therapeutic use | Epilepsy - drug therapy | Infant | Epilepsy - etiology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - classification | Index Medicus
Journal Article
Anesthesia and analgesia, ISSN 0003-2999, 09/2017, Volume 125, Issue 3, pp. 822 - 836
Life Sciences & Biomedicine | Anesthesiology | Science & Technology | Anesthesia - methods | Humans | Intraoperative Complications - prevention & control | Metabolism, Inborn Errors - metabolism | Pain Management - methods | Anesthesia - adverse effects | Intraoperative Complications - metabolism | Metabolism, Inborn Errors - diagnosis | Metabolism, Inborn Errors - surgery | Pain Management - adverse effects | Intraoperative Complications - etiology | Anesthetics - administration & dosage | Anesthetics - adverse effects | Index Medicus | Abridged Index Medicus
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2016, Volume 47, Issue 5, pp. 285 - 292
gene therapy | indications | Review | neurodevelopment | hematopoietic cell transplantation | Journal Article | Review Article | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Adrenoleukodystrophy - physiopathology | Humans | Mucopolysaccharidosis I - physiopathology | Adrenoleukodystrophy - psychology | Leukodystrophy, Metachromatic - psychology | Metabolism, Inborn Errors - therapy | Neurodevelopmental Disorders - psychology | Leukodystrophy, Globoid Cell - psychology | Leukodystrophy, Globoid Cell - physiopathology | Adrenoleukodystrophy - therapy | Leukodystrophy, Globoid Cell - complications | Mucopolysaccharidosis I - therapy | Adrenoleukodystrophy - complications | Leukodystrophy, Globoid Cell - therapy | Neurodevelopmental Disorders - etiology | Leukodystrophy, Metachromatic - physiopathology | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Neurodevelopmental Disorders - physiopathology | Mucopolysaccharidosis I - complications | Leukodystrophy, Metachromatic - complications | Mucopolysaccharidosis I - psychology | Metabolism, Inborn Errors - psychology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology
Journal Article
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Aminoacid disorders | Glycine - analogs & derivatives | Glycine - urine | Humans | Child, Preschool | Molecular Sequence Data | Nuclear Family | RNA, Messenger - analysis | Amidinotransferases - genetics | Intellectual Disability - complications | Intellectual Disability - genetics | Intellectual Disability - metabolism | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Lymphocytes | Base Sequence | Creatine - metabolism | Creatine - administration & dosage | Fibroblasts | Intellectual Disability - enzymology | Female | Child | Amino Acid Sequence | Amidinotransferases - deficiency | RNA, Messenger - genetics | Genotype | Amidinotransferases - metabolism | Creatine - therapeutic use | Amino Acid Metabolism, Inborn Errors - enzymology | Codon, Nonsense - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn errors of | Enzymes | Physiological aspects | Genetic aspects | Regulation | Creatine | Mental retardation | creatine | Arginine:glycine amidinotransferase | Index Medicus | Report
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Pyrimidine metabolism | Pediatrics | Nephrocalcinosis | Medicine & Public Health | Glycogen storage disease type 1 | Primary hyperoxaluria | Nephrolithiasis | Uric acid | Xanthine | Fanconi syndrome | Cystinuria | Purine metabolism | Glycogen storage disease type 1 | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Nephrolithiasis - etiology | Purine-Pyrimidine Metabolism, Inborn Errors - metabolism | Humans | Glycogen Storage Disease Type I - metabolism | Hyperoxaluria - etiology | Metabolism, Inborn Errors - genetics | Glycogen Storage Disease Type I - complications | Amino Acid Metabolism, Inborn Errors - metabolism | Glycogen Storage Disease Type I - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Nephrolithiasis - genetics | Child | Hyperoxaluria - genetics | Metabolism, Inborn Errors - complications | Metabolic disorders | Index Medicus | Educational Review
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