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Cell reports (Cambridge), ISSN 2211-1247, 02/2016, Volume 14, Issue 5, pp. 991 - 999
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Neocortex - pathology | Autistic Disorder - pathology | Neocortex - embryology | Autistic Disorder - metabolism | 3-Hydroxyacyl CoA Dehydrogenases - metabolism | Cell Lineage - drug effects | Cell Self Renewal - drug effects | Racemases and Epimerases - metabolism | Lipid Metabolism, Inborn Errors - pathology | Biocatalysis - drug effects | Carnitine - pharmacology | Carnitine O-Palmitoyltransferase - metabolism | Oxidation-Reduction - drug effects | Female | Carnitine O-Palmitoyltransferase - deficiency | Lipid Droplets - metabolism | Fatty Acids - metabolism | Lipid Droplets - drug effects | Lipid Metabolism, Inborn Errors - metabolism | Enoyl-CoA Hydratase - metabolism | Neural Stem Cells - drug effects | Neural Stem Cells - pathology | Carbon-Carbon Double Bond Isomerases - metabolism | Cell Division - drug effects | Animals | Acetyl-CoA C-Acyltransferase - metabolism | Mice | RNA, Small Interfering - metabolism | Index Medicus
Journal Article
Journal of lipid research, ISSN 0022-2275, 03/2019, Volume 60, Issue 3, pp. 475 - 483
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Sphingolipids - metabolism | Animals | Lysosomes - metabolism | Metabolism, Inborn Errors - pathology | Humans | Metabolism, Inborn Errors - metabolism | Index Medicus | storage diseases | rare disease | genetics | JLR s | sphingolipids | glycosphingolipids | gangliosides | metabolic disease | ceramides | bioactive lipids
Journal Article
Advances in biological regulation, ISSN 2212-4926, 01/2019, Volume 71, pp. 128 - 140
SGPL1 | NPHS14 | Focal segmental glomerulosclerosis | Lymphopenia | Charcot Marie Tooth disease | Sphingosine phosphate lyase | Sphingosine-1-phosphate | Immunodeficiency | Sphingolipid | Nephrotic syndrome | Neuropathy | Lysophospholipids - metabolism | Aldehyde-Lyases - deficiency | Lipid Metabolism, Inborn Errors - genetics | Humans | Lipid Metabolism, Inborn Errors - enzymology | Syndrome | Lysophospholipids - genetics | Sphingosine - analogs & derivatives | Animals | Lipid Metabolism, Inborn Errors - pathology | Mice, Mutant Strains | Sphingosine - genetics | Mice | Sphingosine - metabolism | Cell Movement | Disease Models, Animal | Phosphates | Cell culture | Animal models | G protein-coupled receptors | Leukocyte migration | Biochemistry | Sphingolipids | Sphingolipidosis | Sphingosine 1-phosphate | Cell adhesion & migration | Proteins | Receptors | Mathematical models | Children | Lipid metabolism | Edema | Phenotypes | Cell survival | Fetuses | Abnormalities | Metabolism | Substrates | Vertebrates | Cell death | Extrusion | Mutation | Spl gene | Cell migration | Steroids | Index Medicus | sphingolipid | sphingosine phosphate lyase | neuropathy | sphingosine-1-phosphate | immunodeficiency | focal segmental glomerulosclerosis | nephrotic syndrome | lymphopenia
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
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 22, pp. 4283 - 4283
Life Sciences & Biomedicine | Hematology | Science & Technology | Acid-Base Imbalance - blood | Intestinal Diseases - complications | Metabolism, Inborn Errors - etiology | Humans | Middle Aged | Acid-Base Imbalance - diagnosis | Male | Thrombocytopenia - complications | Anemia, Hemolytic, Congenital - etiology | Hypercholesterolemia - pathology | Lipid Metabolism, Inborn Errors - pathology | Phytosterols - adverse effects | Metabolism, Inborn Errors - blood | Hypercholesterolemia - blood | Acid-Base Imbalance - etiology | Lipid Metabolism, Inborn Errors - blood | Acid-Base Imbalance - pathology | Lipid Metabolism, Inborn Errors - diagnosis | Anemia, Hemolytic, Congenital - blood | Anemia, Hemolytic, Congenital - pathology | Thrombocytopenia - pathology | Thrombocytopenia - blood | Intestinal Diseases - diagnosis | Anemia, Hemolytic, Congenital - diagnosis | Erythrocytes, Abnormal - pathology | Metabolism, Inborn Errors - diagnosis | Phytosterols - blood | Intestinal Diseases - blood | Hypercholesterolemia - diagnosis | Hypercholesterolemia - complications | Thrombocytopenia - diagnosis | Lipid Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - pathology | Intestinal Diseases - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Biochimica et biophysica acta. Molecular and cell biology of lipids, ISSN 1388-1981, 04/2016, Volume 1861, Issue 4, pp. 269 - 284
Autophagy | Lipid storage disorders | Lipid metabolism | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Fatty Liver - genetics | Fatty Liver - metabolism | Lipid Metabolism, Inborn Errors - genetics | Lipid Metabolism, Inborn Errors - metabolism | Signal Transduction | TOR Serine-Threonine Kinases - metabolism | Fatty Liver - pathology | Humans | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - pathology | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - metabolism | Animals | Lysosomes - metabolism | Lipid Metabolism, Inborn Errors - pathology | Lysosomal Storage Diseases - metabolism | Lipid Metabolism - genetics | Lysosomes - pathology | Autophagy - genetics | Lipids | Analysis
Journal Article
Molecular bioSystems, ISSN 1742-206X, 2012, Volume 8, Issue 10, pp. 2545 - 2558
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Oxidation-Reduction | Dried Blood Spot Testing | Humans | Carbohydrate Metabolism | Metabolism, Inborn Errors - metabolism | Lipid Metabolism | Carnitine - metabolism | Metabolism, Inborn Errors - genetics | Metabolomics - methods | Acetyl Coenzyme A - metabolism | Brain - metabolism | Amino Acids - metabolism | Tandem Mass Spectrometry | Metabolism, Inborn Errors - diagnosis | Metabolic Networks and Pathways | Brain - pathology | Carnitine - analogs & derivatives | Genome, Human | Fatty Acids - metabolism | Infant, Newborn | Index Medicus
Journal Article