Inborn errors of amino acid. Medical search. Frequent questions

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Anatomy8

Cell Line Liver Fibroblasts Brain Cells, Cultured COS Cells Cell Membrane Erythrocytes

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Escherichia coli Cattle Saccharomyces cerevisiae Swine Rabbits Chickens Cricetinae

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 Candidiasis, Chronic Mucocutaneous Homocystinuria Pyruvate Metabolism, Inborn Errors Fabry Disease Ornithine Carbamoyltransferase Deficiency Disease Hypophosphatasia Brain Diseases, Metabolic Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Porphyria, Erythropoietic Hyperargininemia Failure to Thrive Metal Metabolism, Inborn Errors Citrullinemia Alkaptonuria Rare Diseases Multiple Acyl Coenzyme A Dehydrogenase Deficiency Metabolic Diseases Mucopolysaccharidoses Iron Metabolism Disorders Lysosomal Storage Diseases Pyruvate Dehydrogenase Complex Deficiency Disease Genetic Diseases, Inborn Neuroaxonal Dystrophies Hyperoxaluria, Primary Renal Tubular Transport, Inborn Errors Intellectual Disability Nervous System Diseases Immunologic Deficiency Syndromes Liver Diseases

Chemicals and Drugs97

Amino Acids Amino Acids, Essential Amino Acid Transport Systems Homogentisate 1,2-Dioxygenase alpha-Galactosidase DNA, Complementary Argininosuccinic Acid Amino Acids, Aromatic Isovaleryl-CoA Dehydrogenase DNA Amino Acids, Branched-Chain Peptide Fragments Amino Acids, Sulfur Recombinant Proteins Leucine Oxidoreductases Acting on CH-CH Group Donors Pentanoic Acids Methylmalonic Acid Methylmalonyl-CoA Mutase Hydroxocobalamin Carnitine Glutarates Peptides Bacterial Proteins Amidinotransferases Glutaryl-CoA Dehydrogenase DNA Primers Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Proteins Arginine Alanine Recombinant Fusion Proteins RNA, Messenger Amino Acid Transport Systems, Basic Isoleucine Lysine Ornithine Ornithine-Oxo-Acid Transaminase Amino Acids, Basic Codon Adenylosuccinate Lyase Carrier Proteins Acyl-CoA Dehydrogenase Urea Cyanogen Bromide Trypsin Glycine Argininosuccinate Lyase Oxidoreductases Glutamine Amino Acids, Diamino Valine Methionine Excitatory Amino Acids Phenylalanine Hydroxylase Uroporphyrinogen III Synthetase Aspartic Acid Nitrogen Proline Phenylalanine Amino Acid Transport System A Cysteine Amino Acids, Neutral Tryptophan Membrane Proteins Ammonia DNA, Bacterial Macromolecular Substances Viral Proteins Acyl-CoA Dehydrogenases Plant Proteins Threonine Dietary Proteins Receptors, Amino Acid Epitopes Protein Precursors DNA-Binding Proteins Endopeptidases Chymotrypsin Protein Sorting Signals Amino Acids, Cyclic Serine Amino Acyl-tRNA Synthetases Fungal Proteins Aminoisobutyric Acids Glutamic Acid Vitamin B 12 Escherichia coli Proteins Carbon Isotopes Oligopeptides Large Neutral Amino Acid-Transporter 1 Bile Acids and Salts Oligonucleotide Probes Transcription Factors Tyrosine Oligodeoxyribonucleotides Culture Media

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Neonatal Screening Amino Acid Substitution Cloning, Molecular Sequence Alignment Mutagenesis, Site-Directed Models, Molecular Diagnostic Errors Sequence Analysis, DNA Restriction Mapping Polymerase Chain Reaction DNA Mutational Analysis Electrophoresis, Polyacrylamide Gel Mass Spectrometry Pedigree Magnetic Resonance Spectroscopy Chromatography, High Pressure Liquid Models, Biological Sequence Analysis Diet, Protein-Restricted Transfection Sequence Analysis, Protein Tandem Mass Spectrometry Phlebotomy Blood Specimen Collection Reproducibility of Results Blotting, Northern Gas Chromatography-Mass Spectrometry Reference Values Chromatography, Gel Chromosome Mapping Chromatography, Ion Exchange Genetic Complementation Test Peptide Mapping Blotting, Southern Models, Genetic Circular Dichroism Enzyme Stability Culture Media

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes59

Sequence Homology, Amino Acid Amino Acid Sequence Amino Acid Substitution Mutation Base Sequence Amino Acid Motifs Binding Sites Sequence Homology, Nucleic Acid Kinetics Protein Conformation Structure-Activity Relationship Protein Structure, Tertiary Substrate Specificity Protein Binding Molecular Weight Phylogeny Point Mutation Genes, Bacterial Phenotype Mutation, Missense Protein Structure, Secondary Plasmids Conserved Sequence Species Specificity Codon Exons Biological Transport Homozygote Protein Biosynthesis Genes Open Reading Frames Time Factors Gene Library Sequence Deletion Mutagenesis Diet, Protein-Restricted Alleles Algorithms Transcription, Genetic Evolution, Molecular Consanguinity Transfection Gene Expression Genotype Hydrolysis Metabolic Networks and Pathways Protein Sorting Signals Multigene Family Heterozygote Repetitive Sequences, Amino Acid Catalysis Protein Processing, Post-Translational Temperature Genetic Code Hydrogen-Ion Concentration Enzyme Stability Genes, Fungal Genetic Variation Sequence Homology

Technology, Industry, Agriculture1

Dietary Proteins

Information Science6

Amino Acid Sequence Base Sequence Molecular Sequence Data Phylogeny Algorithms Computer Simulation

Named Groups1

Infant, Newborn

Health Care6

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

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Australian Capital Territory

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Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Amino Acids Sequence Homology, Amino Acid Lipid Metabolism, Inborn Errors Neonatal Screening Amino Acid Sequence Purine-Pyrimidine Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Amino Acid Substitution Urea Cycle Disorders, Inborn Cloning, Molecular Brain Diseases, Metabolic, Inborn Argininosuccinic Aciduria Mutation Hyperammonemia Amino Acids, Essential Base Sequence Phenylketonurias Amino Acid Transport Systems Molecular Sequence Data Smith-Lemli-Opitz Syndrome Sequence Alignment Amino Acid Motifs Infant, Newborn Refractive Errors Homogentisate 1,2-Dioxygenase Escherichia coli alpha-Galactosidase Candidiasis, Chronic Mucocutaneous Homocystinuria Binding Sites Pyruvate Metabolism, Inborn Errors Fabry Disease Ornithine Carbamoyltransferase Deficiency Disease Mutagenesis, Site-Directed Australian Capital Territory DNA, Complementary Argininosuccinic Acid Amino Acids, Aromatic Sequence Homology, Nucleic Acid Isovaleryl-CoA Dehydrogenase DNA Kinetics Amino Acids, Branched-Chain Peptide Fragments Hypophosphatasia Protein Conformation Amino Acids, Sulfur Models, Molecular Recombinant Proteins Leucine Diagnostic Errors Oxidoreductases Acting on CH-CH Group Donors Pentanoic Acids Methylmalonic Acid Brain Diseases, Metabolic Methylmalonyl-CoA Mutase Hydroxocobalamin Structure-Activity Relationship Protein Structure, Tertiary Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Carnitine Substrate Specificity Glutarates Peptides Sequence Analysis, DNA Protein Binding Molecular Weight Bacterial Proteins Porphyria, Erythropoietic Hyperargininemia Amidinotransferases Restriction Mapping Glutaryl-CoA Dehydrogenase DNA Primers Phylogeny Polymerase Chain Reaction Failure to Thrive Metal Metabolism, Inborn Errors Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Cell Line Proteins Arginine Liver Citrullinemia DNA Mutational Analysis Point Mutation Genes, Bacterial Alkaptonuria Alanine Recombinant Fusion Proteins Rare Diseases Phenotype Multiple Acyl Coenzyme A Dehydrogenase Deficiency Electrophoresis, Polyacrylamide Gel RNA, Messenger Mass Spectrometry

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