Lysosomal metabolism inborn errors. Medical search. Frequent questions

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Anatomy5

Liver Brain Fibroblasts Microsomes, Liver Cells, Cultured

Organisms1

Diseases43

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 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 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 Drugs39

Homogentisate 1,2-Dioxygenase alpha-Galactosidase Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Methylmalonic Acid Hydroxocobalamin Pentanoic Acids Methylmalonyl-CoA Mutase Oxidoreductases Acting on CH-CH Group Donors Carnitine Glutarates Amidinotransferases Glucose Glutaryl-CoA Dehydrogenase Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Adenylosuccinate Lyase Acyl-CoA Dehydrogenase Ornithine-Oxo-Acid Transaminase Fatty Acids 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 Lactic Acid Insulin Amino Acids Carbon Lactates Arginine

Analytical, Diagnostic and Therapeutic Techniques and Equipment17

Neonatal Screening Diagnostic Errors Models, Biological Magnetic Resonance Spectroscopy 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 Processes22

Energy Metabolism Lipid Metabolism Mutation Metabolism Metabolic Networks and Pathways Phenotype Homozygote Time Factors Base Sequence Biotransformation Oxidation-Reduction Diet, Protein-Restricted Consanguinity Glycolysis Amino Acid Sequence Kinetics Mutation, Missense Algorithms Genotype Oxygen Consumption 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 Lipid Metabolism, Inborn Errors Neonatal Screening Purine-Pyrimidine Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Urea Cycle Disorders, Inborn Brain Diseases, Metabolic, Inborn Argininosuccinic Aciduria Hyperammonemia Energy Metabolism Lipid Metabolism Phenylketonurias Smith-Lemli-Opitz Syndrome Refractive Errors Infant, Newborn Homogentisate 1,2-Dioxygenase Homocystinuria Candidiasis, Chronic Mucocutaneous Pyruvate Metabolism, Inborn Errors alpha-Galactosidase Fabry Disease Australian Capital Territory Ornithine Carbamoyltransferase Deficiency Disease Argininosuccinic Acid Mutation Liver Isovaleryl-CoA Dehydrogenase Hypophosphatasia Methylmalonic Acid Diagnostic Errors Brain Diseases, Metabolic Hydroxocobalamin Pentanoic Acids Methylmalonyl-CoA Mutase Oxidoreductases Acting on CH-CH Group Donors Carnitine Metal Metabolism, Inborn Errors Metabolism Fructose Metabolism, Inborn Errors Glutarates Maple Syrup Urine Disease Amidinotransferases Metabolic Diseases Glucose Porphyria, Erythropoietic Glutaryl-CoA Dehydrogenase Hyperargininemia Failure to Thrive Iron Metabolism Disorders Metabolic Networks and Pathways Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Alkaptonuria Rare Diseases Citrullinemia Molecular Sequence Data Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mucopolysaccharidoses Models, Biological Adenylosuccinate Lyase Acyl-CoA Dehydrogenase Pyruvate Dehydrogenase Complex Deficiency Disease Lysosomal Storage Diseases Ornithine-Oxo-Acid Transaminase Magnetic Resonance Spectroscopy Neuroaxonal Dystrophies Hyperoxaluria, Primary Genetic Diseases, Inborn Fatty Acids Phenotype Mass Spectrometry Homozygote Pedigree Time Factors Renal Tubular Transport, Inborn Errors Base Sequence Argininosuccinate Lyase Biotransformation Gas Chromatography-Mass Spectrometry Brain Fibroblasts Uroporphyrinogen III Synthetase Oxidoreductases Tandem Mass Spectrometry Ornithine Ammonia Microsomes, Liver Cytochrome P-450 Enzyme System Reference Values Phlebotomy Critical Pathways Oxidation-Reduction Blood Specimen Collection Reproducibility of Results Diet, Protein-Restricted Cholesterol Urea Phenylalanine Hydroxylase Consanguinity

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