X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1081) 1081
Book Review (297) 297
Publication (63) 63
Book / eBook (55) 55
Newsletter (11) 11
Book Chapter (8) 8
Newspaper Article (4) 4
Conference Proceeding (3) 3
Magazine Article (3) 3
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (989) 989
humans (949) 949
female (479) 479
male (450) 450
lipid metabolism, inborn errors - complications (399) 399
adult (263) 263
child (214) 214
lipids (210) 210
infant (192) 192
lipid metabolism, inborn errors - diagnosis (181) 181
child, preschool (180) 180
pediatrics (178) 178
animals (177) 177
infant, newborn (176) 176
lipid metabolism, inborn errors - genetics (169) 169
adolescent (162) 162
metabolism (160) 160
abridged index medicus (157) 157
lipid metabolism (148) 148
genetics & heredity (145) 145
endocrinology & metabolism (138) 138
middle aged (119) 119
fatty acids - metabolism (108) 108
mutation (107) 107
fatty acids (106) 106
enzymes (101) 101
lipid metabolism, inborn errors - metabolism (92) 92
medicine, research & experimental (92) 92
pregnancy (91) 91
analysis (90) 90
medicine & public health (90) 90
oxidation-reduction (88) 88
biochemistry, general (81) 81
metabolic diseases (80) 80
lipid metabolism, inborn errors - pathology (78) 78
physiological aspects (77) 77
biochemistry & molecular biology (76) 76
diagnosis (76) 76
internal medicine (74) 74
cholesterol (70) 70
risk factors (69) 69
disease (65) 65
lipid metabolism, inborn errors - enzymology (64) 64
oxidative stress (64) 64
phenotype (63) 63
human genetics (62) 62
research (62) 62
lipids - blood (61) 61
metabolism, inborn errors - complications (61) 61
carnitine (60) 60
children (59) 59
mice (59) 59
proteins (59) 59
clinical neurology (58) 58
care and treatment (57) 57
neurosciences (57) 57
liver (55) 55
diagnosis, differential (50) 50
health aspects (50) 50
lipid metabolism, inborn errors - blood (50) 50
lipid metabolism, inborn errors - therapy (49) 49
article (48) 48
disorders (48) 48
metabolites (48) 48
acyl-coa dehydrogenase, long-chain - deficiency (47) 47
glycolipids - metabolism (47) 47
infants (47) 47
liver - pathology (45) 45
gene (44) 44
liver - metabolism (44) 44
medicine, general & internal (44) 44
aged (43) 43
nutrition & dietetics (43) 43
beta-oxidation (42) 42
lipid-peroxidation (41) 41
biopsy (40) 40
deficiency (40) 40
mass spectrometry (40) 40
treatment outcome (40) 40
lipoproteins - blood (39) 39
medicine (39) 39
rats (39) 39
triglycerides - blood (39) 39
cholesterol - blood (38) 38
genotype (38) 38
glucose (38) 38
medical research (38) 38
metabolic disorders (38) 38
syndrome (38) 38
genetic aspects (37) 37
lipid metabolism, inborn errors - drug therapy (37) 37
triglycerides (37) 37
young adult (37) 37
acyl-coa dehydrogenase - deficiency (36) 36
atherosclerosis (36) 36
cell biology (36) 36
lipid metabolism, inborn errors - physiopathology (36) 36
plasma (36) 36
muscular diseases - genetics (35) 35
muscular diseases - etiology (34) 34
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (45) 45
UofT at Mississauga - Stacks (4) 4
UTL at Downsview - May be requested (3) 3
UofT at Scarborough - Stacks (2) 2
Chemistry (A D Allen) - Stacks (1) 1
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Lakeridge Health Sciences - Oshawa (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1029) 1029
French (34) 34
German (34) 34
Japanese (16) 16
Russian (8) 8
Spanish (8) 8
Italian (7) 7
Czech (6) 6
Dutch (6) 6
Chinese (4) 4
Polish (4) 4
Hungarian (3) 3
Portuguese (3) 3
Romanian (3) 3
Ndonga (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatric Research, ISSN 0031-3998, 07/2009, Volume 66, Issue 1, pp. 91 - 95
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2005, Volume 115, Issue 7, pp. 1777 - 1784
Journal Article
PLoS ONE, ISSN 1932-6203, 2016, Volume 11, Issue 2, pp. e0147818 - e0147818
Rhabdomyolysis is common in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and other metabolic myopathies, but its pathogenic basis is poorly... 
SKELETAL-MUSCLE | MAGNETIC-RESONANCE-SPECTROSCOPY | ACID BETA-OXIDATION | MAXIMAL FAT OXIDATION | FATIGUE | MULTIDISCIPLINARY SCIENCES | IN-VIVO | KINASE | RESISTANCE | DUCHENNE MUSCULAR-DYSTROPHY | MITOCHONDRIAL MYOPATHIES | Mitochondrial Diseases - pathology | Humans | Muscle Fibers, Fast-Twitch - metabolism | Mitochondrial Diseases - metabolism | Rhabdomyolysis - complications | Male | Muscle Fibers, Slow-Twitch - metabolism | Adenosine Triphosphate - biosynthesis | Case-Control Studies | Mitochondrial Diseases - complications | Exercise | Lipid Metabolism, Inborn Errors - pathology | Muscular Diseases - physiopathology | Rhabdomyolysis - pathology | Adult | Female | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Oxidative Phosphorylation | Rhabdomyolysis - physiopathology | Mitochondria - metabolism | Muscular Diseases - pathology | Models, Statistical | Acetylcarnitine - blood | Rhabdomyolysis - metabolism | Lipid Metabolism, Inborn Errors - physiopathology | Phosphates - metabolism | Muscle Fibers, Slow-Twitch - pathology | Adolescent | Muscle Fibers, Fast-Twitch - pathology | Muscular Diseases - complications | Phosphocreatine - metabolism | Lipid Metabolism, Inborn Errors - complications | Mitochondrial Diseases - physiopathology | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Physiological aspects | Cycling | Research | Rhabdomyolysis | Risk factors | Phosphates | Pediatrics | Neurosciences | Nuclear magnetic resonance--NMR | Laboratories | Oxidative metabolism | Homeostasis | Chains | Dehydrogenase | Muscular dystrophy | Acyl-CoA dehydrogenase | Defects | Mitochondria | Child development | Energy | Metabolites | Rodents | Workloads | Mathematical models | Bioinformatics | Enzymes | Departments | Phosphorus | Phosphocreatine | Earth science | Metabolism | Medical screening | Patients | Fatty acids | Carnitine | Children & youth | Energy balance | Musculoskeletal system | Chemistry | Hypotheses | Hospitals | Bicycles | Quadriceps muscle | Respiration | ATP | Metabolic disorders | Index Medicus | Nuclear magnetic resonance | NMR
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2016, Volume 119, Issue 3, pp. 223 - 231
Journal Article
American Journal of Physiology - Heart and Circulatory Physiology, ISSN 0363-6135, 09/2011, Volume 301, Issue 3, pp. H813 - H823
Gelinas R, Thompson-Legault J, Bouchard B, Daneault C, Mansour A, Gillis MA, Charron G, Gavino V, Labarthe F, Des Rosiers C. Prolonged QT interval and lipid... 
Triglycerides | Metabolic fluxes | Docosahexaenoic acid | Isolated working mouse heart perfusion | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | PHYSIOLOGY | SUDDEN-DEATH | CIRRHOTIC CARDIOMYOPATHY | CARDIAC MYOCYTES | isolated working mouse heart perfusion | COENZYME-A DEHYDROGENASE | triglycerides | DEFICIENT MICE | METABOLISM | FATTY-ACID OXIDATION | docosahexaenoic acid | PERIPHERAL VASCULAR DISEASE | FISH-OIL | metabolic fluxes | Palmitic Acid - metabolism | Age Factors | Muscular Diseases - enzymology | Long QT Syndrome - enzymology | Male | Metabolism, Inborn Errors - enzymology | Mice, 129 Strain | Long QT Syndrome - physiopathology | Mitochondrial Diseases - complications | Muscular Diseases - physiopathology | Aging | Fish Oils - administration & dosage | Lipid Metabolism - genetics | Disease Models, Animal | Mitochondrial Diseases - genetics | Myocardial Contraction | Long QT Syndrome - prevention & control | Oxidation-Reduction | Liver - metabolism | Mice, Inbred C57BL | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Telemetry | Metabolism, Inborn Errors - genetics | Mice, Knockout | Triglycerides - metabolism | Mitochondrial Diseases - enzymology | Myocardium - enzymology | Animals | Analysis of Variance | Heart Conduction System - physiopathology | Perfusion | Lipid Metabolism, Inborn Errors | Fish Oils - metabolism | Long QT Syndrome - genetics | Muscular Diseases - complications | Mice | Muscular Diseases - genetics | Mitochondrial Diseases - physiopathology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Docosahexaenoic Acids - metabolism | Electrocardiography, Ambulatory | Index Medicus | Energetics and Metabolism
Journal Article
Ophthalmology, ISSN 0161-6420, 10/2016, Volume 123, Issue 10, pp. 2183 - 2195
Purpose To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders. Design... 
AMPLITUDE-DECORRELATION ANGIOGRAPHY | COA DEHYDROGENASE | OPTICAL COHERENCE TOMOGRAPHY | FATTY-ACID OXIDATION | STRATEGY | OPTIMAL DIETARY THERAPY | OPHTHALMOLOGY | RETINOPATHY | G1528C MUTATION | SPECTRUM | 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY | Lipid Metabolism, Inborn Errors - genetics | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Rhabdomyolysis - complications | Infant | Male | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Young Adult | Cardiomyopathies - genetics | Rhabdomyolysis - diagnosis | Visual Fields | Cardiomyopathies - diagnosis | Adult | Female | Retrospective Studies | Mitochondrial Myopathies - diagnosis | Child | Choroid Diseases - genetics | Fluorescein Angiography | Electroretinography | Mitochondrial Trifunctional Protein - genetics | Mitochondrial Myopathies - complications | Tomography, Optical Coherence | Lipid Metabolism, Inborn Errors - diagnosis | Genotype | Choroid Diseases - etiology | Visual Acuity | Forecasting | Nervous System Diseases - complications | Mitochondrial Myopathies - genetics | Mitochondrial Trifunctional Protein - metabolism | Rhabdomyolysis - genetics | Adolescent | Cardiomyopathies - complications | Lipid Metabolism, Inborn Errors - complications | Choroid Diseases - diagnosis | Fundus Oculi | Mitochondrial Trifunctional Protein - deficiency | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1274 - 1279
Whole-exome sequencing allows for an unbiased and comprehensive mutation screening. Although successfully used to facilitate the diagnosis of single-gene... 
EXOME | SECONDARY HYPOCALCEMIA | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISORDERS | MUTATIONS | TRPM6 | THYROGLOBULIN GENE | DISCOVERY | GENOME | HYPOMAGNESEMIA | Intestinal Diseases - complications | Lipid Metabolism, Inborn Errors - genetics | Lipoproteins - genetics | Humans | Hypothyroidism - complications | Male | Magnesium Deficiency - diagnosis | Young Adult | Magnesium Deficiency - genetics | Magnesium Deficiency - complications | RNA Splicing | Female | Hypothyroidism - genetics | Phytosterols - adverse effects | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Hypothyroidism - diagnosis | Phytosterols - genetics | Intestinal Diseases - diagnosis | Phenotype | Pedigree | Adolescent | Hypercholesterolemia - diagnosis | Thyroglobulin - genetics | TRPM Cation Channels - genetics | Hypercholesterolemia - complications | Consanguinity | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Mutation | ATP Binding Cassette Transporter, Sub-Family G, Member 5 - genetics | Alternative splicing | Pediatrics | Phenotypes | Congenital diseases | Internal medicine | Genomes | Thyroid gland | Sitosterolemia | Hypothyroidism | Patients | Medicine | Transient receptor potential proteins | Hypercholesterolemia | Sterols | Thyroglobulin | Atherosclerosis | Genetics | Magnesium | Diagnosis | Bioinformatics | Hypomagnesemia | Genotypes | Index Medicus
Journal Article
Gene, ISSN 0378-1119, 12/2013, Volume 531, Issue 2, pp. 191 - 198
Sulfite oxidase (SO) deficiency is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate and S-sulfocysteine.... 
Sulfite oxidase deficiency | Sulfite | Thiosulfate | Reactive species | Rat brain | Bioenergetic dysfunction | MOLYBDENUM-COFACTOR DEFICIENCY | OXIDATIVE STRESS | LIPID-PEROXIDATION | RAT CEREBRAL-CORTEX | HUMAN SKELETAL-MUSCLE | CYTOCHROME-C-OXIDASE | MITOCHONDRIAL CREATINE-KINASE | REACTIVE OXYGEN | ACID IN-VITRO | GENETICS & HEREDITY | NITRIC-OXIDE | Amino Acid Metabolism, Inborn Errors - complications | Electron Transport - drug effects | Rats, Wistar | Amino Acid Metabolism, Inborn Errors - physiopathology | Electron Transport - genetics | Male | Brain - physiology | Sulfite Oxidase - deficiency | Sulfites - pharmacology | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Oxidation-Reduction - drug effects | Electron Transport - physiology | Homeostasis - drug effects | Energy Metabolism - physiology | Sulfite Oxidase - genetics | Brain Diseases, Metabolic - genetics | Rats | Thiosulfates - pharmacology | Brain Diseases, Metabolic - metabolism | Sulfites - metabolism | Thiosulfates - metabolism | Brain - drug effects | Animals | Sulfite Oxidase - metabolism | Brain - pathology | Brain Diseases, Metabolic - etiology | Energy Metabolism - drug effects | Oxidases | Sulfites | Metabolites | Molybdenum compounds | Creatine kinase | Nitric oxide | Physiological aspects | Homeostasis | Index Medicus
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 03/2014, Volume 89, Issue 3, pp. 320 - 324
Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The... 
CHOLESTEROL ABSORPTION | XANTHOMATOSIS | DIAGNOSIS | INHERITED THROMBOCYTOPENIAS | DIETARY-CHOLESTEROL | DISEASE | PHYTOSTEROLEMIA | PLANT STEROLS | STOMATOCYTIC HEMOLYSIS | HEMATOLOGY | EZETIMIBE | Intestinal Diseases - complications | Splenomegaly - surgery | Vacuoles - ultrastructure | Lipid Metabolism, Inborn Errors - genetics | Prevalence | Lipoproteins - genetics | Cholesterol - blood | Humans | Middle Aged | Male | Phytosterols - pharmacokinetics | Splenectomy | Thrombocytopenia - genetics | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Diagnostic Errors | Cell Shape | Splenomegaly - etiology | Adult | Female | Erythrocytes, Abnormal - ultrastructure | Phytosterols - adverse effects | Hypercholesterolemia - blood | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Exons - genetics | Delayed Diagnosis | Xanthomatosis - etiology | Phytosterols - genetics | Anemia, Hemolytic, Congenital - genetics | Intestinal Diseases - diagnosis | Phenotype | Phytosterols - blood | Purpura, Thrombocytopenic, Idiopathic - diagnosis | Intestinal Diseases - blood | Pedigree | Blood Platelets - ultrastructure | Hypercholesterolemia - diagnosis | Hypercholesterolemia - complications | ATP Binding Cassette Transporter, Sub-Family G, Member 8 | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Osmotic Fragility | ATP Binding Cassette Transporter, Sub-Family G, Member 5 | Anemia | Analysis | Atherosclerosis | Phytosterols | Index Medicus
Journal Article