Mitochondrial metabolism inborn errors. Medical search. Frequent questions

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Anatomy19

Mitochondria Mitochondria, Muscle Mitochondria, Liver Mitochondria, Heart Islets of Langerhans Liver Fibroblasts Cells, Cultured Cytosol Muscle, Skeletal Brain Mitochondrial Membranes Insulin-Secreting Cells Cell Line Cell Line, Tumor Intracellular Membranes Myocardium Microsomes, Liver Neurons

Organisms4

Mice, Knockout Rats, Sprague-Dawley Rats, Wistar Mice, Inbred C57BL

Diseases45

Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors Purine-Pyrimidine Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Urea Cycle Disorders, Inborn Brain Diseases, Metabolic, Inborn Argininosuccinic Aciduria Hyperammonemia Phenylketonurias Smith-Lemli-Opitz Syndrome Refractive Errors Homocystinuria Candidiasis, Chronic Mucocutaneous Pyruvate Metabolism, Inborn Errors Mitochondrial Diseases Fabry Disease Ornithine Carbamoyltransferase Deficiency Disease Hypophosphatasia Brain Diseases, Metabolic Metal Metabolism, Inborn Errors Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Metabolic Diseases Porphyria, Erythropoietic Hyperargininemia Failure to Thrive Iron Metabolism Disorders Alkaptonuria Rare Diseases Citrullinemia Neoplasms Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mucopolysaccharidoses Pyruvate Dehydrogenase Complex Deficiency Disease Lysosomal Storage Diseases Neuroaxonal Dystrophies Hyperoxaluria, Primary Genetic Diseases, Inborn Renal Tubular Transport, Inborn Errors Intellectual Disability Nervous System Diseases Liver Diseases Immunologic Deficiency Syndromes

Chemicals and Drugs69

Mitochondrial Proteins Pyruvic Acid Voltage-Dependent Anion Channels Glucose Adenosine Triphosphate Malates Glutamine NAD Fluoroacetates Reactive Oxygen Species Sirtuin 3 Carnitine Sodium Cyanide Electron Transport Chain Complex Proteins Fatty Acids Lactic Acid Insulin Electron Transport Complex IV Adenosine Diphosphate Uncoupling Agents DNA, Mitochondrial Homogentisate 1,2-Dioxygenase NADP Calcium Ketoglutaric Acids alpha-Galactosidase Oxygen Pyruvate Dehydrogenase Complex Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Glutamic Acid Pyruvates Methylmalonic Acid Hydroxocobalamin Pentanoic Acids Methylmalonyl-CoA Mutase Oxidoreductases Acting on CH-CH Group Donors Aspartic Acid Hydrogen Peroxide Phosphocreatine Caveolin 1 Glutarates Electron Transport Complex I Amidinotransferases Glutaryl-CoA Dehydrogenase Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase RNA, Messenger Adenylosuccinate Lyase Acyl-CoA Dehydrogenase Ornithine-Oxo-Acid Transaminase Enzyme Inhibitors Argininosuccinate Lyase Uroporphyrinogen III Synthetase Oxidoreductases Ornithine Ammonia Cytochrome P-450 Enzyme System Cholesterol Urea Phenylalanine Hydroxylase Acyl-CoA Dehydrogenases Bile Acids and Salts Vitamin B 12 Carbon Radioisotopes Carbon Isotopes Amino Acids Carbon Lactates Arginine

Analytical, Diagnostic and Therapeutic Techniques and Equipment18

Neonatal Screening Models, Biological Magnetic Resonance Spectroscopy Diagnostic Errors Gene Expression Profiling Mass Spectrometry Pedigree Gas Chromatography-Mass Spectrometry Tandem Mass Spectrometry Reference Values Phlebotomy Blood Specimen Collection Reproducibility of Results Diet, Protein-Restricted Chromatography, High Pressure Liquid DNA Mutational Analysis Polymerase Chain Reaction Genetic Testing

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes42

Energy Metabolism Glycolysis Cell Respiration Oxidative Phosphorylation Citric Acid Cycle Oxygen Consumption Oxidation-Reduction Mitochondrial Turnover Membrane Potential, Mitochondrial Lipid Metabolism Metabolic Networks and Pathways Oxidative Stress Mutation Tumor Microenvironment Time Factors Kinetics Phenotype Electron Transport Autophagy Metabolism Homeostasis Signal Transduction Aging Membrane Potentials Gene Expression Regulation Apoptosis Calcium Signaling Cell Survival Cell Death Homozygote Base Sequence Biotransformation Phosphorylation Cell Proliferation Diet, Protein-Restricted Consanguinity Amino Acid Sequence Mutation, Missense Algorithms Genotype Heterozygote Alleles

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Algorithms Computer Simulation

Named Groups1

Infant, Newborn

Health Care6

Neonatal Screening Diagnostic Errors Critical Pathways Reproducibility of Results Technology Assessment, Biomedical Genetic Testing

Geographicals1

Australian Capital Territory

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Named Groups Health Care Geographicals

Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Mitochondria Energy Metabolism Glycolysis Cell Respiration Oxidative Phosphorylation Lipid Metabolism, Inborn Errors Citric Acid Cycle Mitochondrial Proteins Pyruvic Acid Neonatal Screening Voltage-Dependent Anion Channels Glucose Purine-Pyrimidine Metabolism, Inborn Errors Oxygen Consumption Steroid Metabolism, Inborn Errors Adenosine Triphosphate Oxidation-Reduction Carbohydrate Metabolism, Inborn Errors Malates Mitochondria, Muscle Urea Cycle Disorders, Inborn Mitochondria, Liver Brain Diseases, Metabolic, Inborn Glutamine NAD Argininosuccinic Aciduria Fluoroacetates Reactive Oxygen Species Models, Biological Hyperammonemia Sirtuin 3 Magnetic Resonance Spectroscopy Mitochondrial Turnover Carnitine Membrane Potential, Mitochondrial Lipid Metabolism Metabolic Networks and Pathways Oxidative Stress Sodium Cyanide Phenylketonurias Smith-Lemli-Opitz Syndrome Mitochondria, Heart Electron Transport Chain Complex Proteins Mutation Fatty Acids Lactic Acid Islets of Langerhans Insulin Liver Electron Transport Complex IV Adenosine Diphosphate Uncoupling Agents DNA, Mitochondrial Refractive Errors Infant, Newborn Fibroblasts Homogentisate 1,2-Dioxygenase Homocystinuria Candidiasis, Chronic Mucocutaneous NADP Pyruvate Metabolism, Inborn Errors Cells, Cultured Calcium Ketoglutaric Acids Mitochondrial Diseases alpha-Galactosidase Oxygen Cytosol Tumor Microenvironment Fabry Disease Time Factors Muscle, Skeletal Australian Capital Territory Ornithine Carbamoyltransferase Deficiency Disease Pyruvate Dehydrogenase Complex Argininosuccinic Acid Molecular Sequence Data Isovaleryl-CoA Dehydrogenase Brain Glutamic Acid Kinetics Hypophosphatasia Phenotype Pyruvates Methylmalonic Acid Diagnostic Errors Brain Diseases, Metabolic Mitochondrial Membranes Electron Transport Hydroxocobalamin Pentanoic Acids Methylmalonyl-CoA Mutase Oxidoreductases Acting on CH-CH Group Donors Aspartic Acid Hydrogen Peroxide Autophagy Phosphocreatine Caveolin 1

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