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Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 96, Issue 1, pp. 44 - 49
Journal Article
Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Data bases | Defects | Musculoskeletal system | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
American Journal of Physiology - Renal Physiology, ISSN 0363-6127, 12/2014, Volume 307, Issue 12, pp. F1373 - F1379
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 82, Issue 6, pp. 1281 - 1289
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, pp. e53735 - e53735
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic... 
CREATINE | DIAGNOSIS | TRANSPORT | MANAGEMENT | ACIDS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | COA DEHYDROGENASE-DEFICIENCY | SECONDARY | NEURODEGENERATION | TOXICITY | Brain Diseases, Metabolic - pathology | Glutaryl-CoA Dehydrogenase - metabolism | Neurons - pathology | Oligodendroglia - metabolism | Astrocytes - pathology | Brain - enzymology | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Oligodendroglia - drug effects | Neurons - metabolism | Amino Acid Metabolism, Inborn Errors - pathology | Cell Death - drug effects | Culture Media - chemistry | Neurons - drug effects | Disease Models, Animal | Astrocytes - drug effects | Rats | Brain Diseases, Metabolic - metabolism | Rats, Sprague-Dawley | Brain - drug effects | Oligodendroglia - pathology | Animals | Quaternary Ammonium Compounds - metabolism | Brain - pathology | Glutarates - pharmacology | Astrocytes - metabolism | Glutaryl-CoA Dehydrogenase - deficiency | Amino acids | Brain damage | Biochemistry | Metabolites | Cell death | Brain | Cell culture | Pediatrics | Ammonium | Neurosciences | Inborn errors of metabolism | Dehydrogenases | Disease | Neurobiology | Aciduria | Nervous system | Damage prevention | Accumulation | Neurotoxicity | Developmental stages | Rodents | Biocompatibility | Supplementation | Glutamate-ammonia ligase | Urine | Astrocytes | Legal medicine | Mortality | Dietary supplements | Glutaryl-CoA dehydrogenase | Cultures | Exposure | Medical screening | Metabolism | Patients | Carnitine | Brain research | Hospitals | Lysine | In vivo methods and tests | Lactic acid | Three dimensional models | Brain injury | Metabolic disorders | Glutamine | Apoptosis | Index Medicus
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2012, Volume 35, Issue 4, pp. 647 - 653
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1410 - 1419.e13
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | INFECTIONS | DOCK8 | PRIMARY IMMUNODEFICIENCIES | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | ALLERGY | DISEASE | CONGENITAL DISORDERS | LINKAGE ANALYSIS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | Index Medicus | Abridged Index Medicus | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3 | STAT3 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Immunologi inom det medicinska området | Immunology in the medical area
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2014, Volume 289, Issue 28, pp. 19531 - 19537
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2012, Volume 49, Issue 9, pp. 569 - 577
Background Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency... 
YEAST | SUCCINATE-DEHYDROGENASE | PROTEIN | PHEOCHROMOCYTOMA | LEIGH-SYNDROME | FLAVOPROTEIN GENE | GENETICS & HEREDITY | TUMOR-SUPPRESSOR | PARAGANGLIOMA | MISSENSE MUTATIONS | SUBUNIT | Electron Transport | Leukoencephalopathies - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Succinate Dehydrogenase - chemistry | Metabolism, Inborn Errors - enzymology | Germ-Line Mutation - genetics | Genetic Complementation Test | Saccharomyces cerevisiae - metabolism | Mitochondrial Diseases - complications | Base Sequence | Female | Electron Transport Complex II - chemistry | Infant, Newborn | Mitochondrial Diseases - genetics | Amino Acid Sequence | Electron Transport Complex II - genetics | Mutation - genetics | Metabolism, Inborn Errors - genetics | Blotting, Western | Mitochondrial Diseases - enzymology | Magnetic Resonance Imaging | Succinate Dehydrogenase - genetics | Brain - pathology | Leukoencephalopathies - complications | Electron Transport Complex II - deficiency | Muscle, Skeletal - pathology | Metabolism, Inborn Errors - complications | Gene mutations | Succinate dehydrogenase complex | Genetic aspects | Mitochondrial diseases | Research | Diagnosis | Risk factors | Index Medicus | counselling | Neurology | 1506 | Genotype-Phenotype Correlations | Mitochondrial disease | Genetic screening
Journal Article
14.