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Brain, ISSN 0006-8950, 07/2016, Volume 139, Issue 7, pp. e39 - e39
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 11/2019, p. 1
Journal Article
Nature, ISSN 0028-0836, 08/2018, Volume 560, Issue 7717, pp. 238 - 242
Mitochondria are descendants of endosymbiotic bacteria and retain essential prokaryotic features such as a compact circular genome. Consequently, in mammals,... 
IMPORT | AICARDI-GOUTIERES-SYNDROME | READ ALIGNMENT | HUMAN GENOME | INNATE IMMUNE-RESPONSES | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | MUTATIONS | EXPRESSION | RNA Helicases - metabolism | Exoribonucleases - genetics | RNA, Mitochondrial - immunology | Exoribonucleases - deficiency | Humans | Multienzyme Complexes - metabolism | Interferon Type I - immunology | bcl-2 Homologous Antagonist-Killer Protein - metabolism | DEAD-box RNA Helicases - deficiency | Herpesvirus 1, Human - immunology | DEAD-box RNA Helicases - metabolism | Single-Cell Analysis | Polyribonucleotide Nucleotidyltransferase - metabolism | Endoribonucleases - metabolism | Gene Expression Regulation - immunology | Mice, Inbred C57BL | bcl-2-Associated X Protein - metabolism | Interferon-Induced Helicase, IFIH1 - metabolism | DEAD-box RNA Helicases - genetics | Animals | RNA, Double-Stranded - immunology | Herpesvirus 1, Human - genetics | Mice | HeLa Cells | Mutation | Exoribonucleases - metabolism | Interferon Type I - antagonists & inhibitors | Physiological aspects | Mitochondrial DNA | Genetic aspects | Immune response | RNA | Immunological research | Transcription | Genes | Infections | Activation | Genomes | Accumulation | DNA helicase | Signal transduction | Mitochondria | Microorganisms | Indigenous species | Polynucleotide phosphorylase | Localization | Bioinformatics | Deoxyribonucleic acid--DNA | Immune system | Enzymes | Double-stranded RNA | RNA polymerase | Metabolism | Mammals | Ribonucleic acid--RNA | Phosphorylase | Vertebrates | Signaling | Microscopy | Interferon | Diabetes | Cytoplasm | Viral infections | RNA helicase | Life Sciences | Immunology
Journal Article
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 10/2019, Volume 9, Issue 1, pp. 1 - 10
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the... 
IMPACT | DISEASES | MULTIDISCIPLINARY SCIENCES | INBORN-ERRORS | CHILDREN | Urine | Neonates | Phenylketonuria | Maple syrup urine disease | Translocase | Cerebrospinal fluid | Oligosaccharides | Medical screening | Organic acids | Propionic acidemia | Carnitine | Diagnosis | Metabolic disorders
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 5 - 17
Research over the past two decades has led to advances in our understanding of the genetic and metabolic factors that underlie the pathogenesis of type 2... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | PLASMA ACYLCARNITINES | MEDICINE, RESEARCH & EXPERIMENTAL | COA DEHYDROGENASE-DEFICIENCY | BRANCHED-CHAIN | CHAIN AMINO-ACIDS | DIET-INDUCED OBESITY | ENERGY-EXPENDITURE | FATTY-ACID OXIDATION | HEPATIC INSULIN-RESISTANCE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | METHYLMALONIC ACIDEMIA | GENOME-WIDE ASSOCIATION | Amino Acids - blood | Prognosis | Risk Assessment | Diabetes Mellitus, Type 2 - genetics | Humans | Risk Factors | Inflammation Mediators - blood | Metabolism, Inborn Errors - metabolism | Metabolism, Inborn Errors - epidemiology | Diabetes Mellitus, Type 2 - metabolism | Metabolism, Inborn Errors - genetics | Diabetes Mellitus, Type 2 - epidemiology | Animals | Diabetes Mellitus, Type 2 - physiopathology | Lipids - blood | Insulin Resistance - genetics | Blood Glucose - metabolism | Energy Metabolism - genetics | Metabolism, Inborn Errors - physiopathology | Type 2 diabetes | Medical colleges | Branched chain amino acids | Analysis | Resveratrol | Genetic research | Insulin resistance | Fatty acids | Risk factors | Prediabetic state | Cell culture | Animal models | Inborn errors of metabolism | Diabetes mellitus | Amino acids | Inflammation | Metabolism | Insulin | Intermediates | Metabolic pathways | Diabetes | Health risk assessment | Diabetes mellitus (non-insulin dependent) | Cellular stress response
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2017, Volume 40, Issue 1, pp. 21 - 48
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2017, Volume 54, Issue 12, pp. 843 - 851