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The American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 410 - 417
Journal Article
Journal Article
Molecular & cellular proteomics, ISSN 1535-9476, 2015, Volume 14, Issue 11, pp. 3056 - 3071
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2014, Volume 124, Issue 12, pp. 5175 - 5190
Nonalcoholic fatty liver disease (NAFLD) spectrum disorders affect approximately 1 billion individuals worldwide. However, the drivers of progressive... 
HMG-COA SYNTHASE | MEDICINE, RESEARCH & EXPERIMENTAL | PPAR-ALPHA | PERFUSED RAT LIVER | HEPATIC INSULIN-RESISTANCE | MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE | CARDIOVASCULAR-DISEASE | KETONE-BODY METABOLISM | ACID OXIDATION | COENZYME-A METABOLISM | MASS-SPECTROMETRY | Mitochondrial Diseases - pathology | Non-alcoholic Fatty Liver Disease - pathology | Gluconeogenesis - drug effects | Hydroxymethylglutaryl-CoA Synthase - genetics | Mitochondrial Diseases - metabolism | Acyl Coenzyme A - genetics | Male | Hydroxymethylglutaryl-CoA Synthase - metabolism | Hypoglycemia - pathology | Hyperglycemia - genetics | Hyperglycemia - chemically induced | Non-alcoholic Fatty Liver Disease - chemically induced | Mice, Mutant Strains | Hyperglycemia - pathology | Hydroxymethylglutaryl-CoA Synthase - deficiency | Acyl Coenzyme A - metabolism | Hypoglycemia - genetics | Mitochondrial Diseases - genetics | Dietary Fats - adverse effects | Non-alcoholic Fatty Liver Disease - genetics | Citric Acid Cycle - drug effects | Metabolism, Inborn Errors - metabolism | Glucose - genetics | Non-alcoholic Fatty Liver Disease - metabolism | Hypoglycemia - metabolism | Metabolism, Inborn Errors - genetics | Hyperglycemia - metabolism | Citric Acid Cycle - genetics | Animals | Gluconeogenesis - genetics | Glucose - metabolism | Mice | Metabolism, Inborn Errors - pathology | Enzymes | Carbohydrates | Liver diseases | Pathogenesis | Liver | Lipids | Glucose | Metabolism | Fatty acids | Studies | Nutrition research | Metabolites | Rodents | Diabetes | Index Medicus | Abridged Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1268 - 1273
Journal Article
Brain, ISSN 0006-8950, 8/2007, Volume 130, Issue 8, pp. 2045 - 2054
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two... 
Mutations | Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | Mitochondrial myopathy | Electron transfer flavoprotein ubiquinone oxidoreductase | riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | ACYLCOENZYME-A DEHYDROGENASE | BETA-OXIDATION | OXIDATIVE-PHOSPHORYLATION | UBIQUINONE OXIDOREDUCTASE | ACIDEMIA TYPE-II | INTACT CULTURED FIBROBLASTS | ACIDURIA TYPE-II | NEUROSCIENCES | CLINICAL NEUROLOGY | LIPID-STORAGE MYOPATHY | SKELETAL-MUSCLE | mitochondrial myopathy | electron transfer flavoprotein ubiquinone | mutations | ELECTRON-TRANSFER FLAVOPROTEIN | oxidoreductase | Mitochondrial Myopathies - metabolism | Humans | Mitochondria, Muscle - metabolism | Child, Preschool | Iron-Sulfur Proteins - genetics | Male | Muscle, Skeletal - metabolism | Adult | Female | Carnitine - analogs & derivatives | Electron Transport - physiology | Brain Diseases, Metabolic - enzymology | Child | Fatty Acids - metabolism | Electron-Transferring Flavoproteins - genetics | Brain Diseases, Metabolic - genetics | Oxidation-Reduction | Riboflavin - therapeutic use | Carnitine - blood | Metabolism, Inborn Errors - metabolism | Oxidoreductases Acting on CH-NH Group Donors - genetics | Metabolism, Inborn Errors - genetics | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - drug therapy | Mitochondrial Myopathies - genetics | Acyl-CoA Dehydrogenase - deficiency | Adolescent | Muscle, Skeletal - pathology | Mutation | Metabolism, Inborn Errors - pathology | Index Medicus | Abridged Index Medicus | Electron Transport | Fatty Acids | pathology | Oxidoreductases Acting on CH-NH Group Donors | Riboflavin | Metabolic | MEDICIN OCH HÄLSOVETENSKAP | Acyl-CoA Dehydrogenase | Skeletal | Inborn Errors | Mitochondria | genetics | Brain Diseases | Muscle | MEDICAL AND HEALTH SCIENCES | drug therapy | Mitochondrial Myopathies | Electron-Transferring Flavoproteins | Preschool | physiology | blood | Iron-Sulfur Proteins | enzymology | Carnitine | deficiency | analogs & derivatives | metabolism | therapeutic use
Journal Article
Pediatric Research, ISSN 0031-3998, 07/2009, Volume 66, Issue 1, pp. 91 - 95
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 371 - 372
Journal Article