Inborn errors of neonatal screening. Medical search. Frequent questions

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Anatomy2

Fibroblasts Liver

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 Pyruvate Metabolism, Inborn Errors Homocystinuria Fabry Disease Ornithine Carbamoyltransferase Deficiency Disease Hypophosphatasia Brain Diseases, Metabolic Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Porphyria, Erythropoietic Failure to Thrive Metal Metabolism, Inborn Errors Hyperargininemia Alkaptonuria Rare Diseases Citrullinemia Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mucopolysaccharidoses Metabolic Diseases Iron Metabolism Disorders 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 Immunologic Deficiency Syndromes Liver Diseases

Chemicals and Drugs26

Homogentisate 1,2-Dioxygenase alpha-Galactosidase Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Hydroxocobalamin Methylmalonic Acid Methylmalonyl-CoA Mutase Pentanoic Acids Oxidoreductases Acting on CH-CH Group Donors Glutarates Carnitine Glutaryl-CoA Dehydrogenase Amidinotransferases Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Adenylosuccinate Lyase Ornithine-Oxo-Acid Transaminase Acyl-CoA Dehydrogenase Uroporphyrinogen III Synthetase Argininosuccinate Lyase Phenylalanine Hydroxylase Ornithine Acyl-CoA Dehydrogenases Amino Acids Oxidoreductases Vitamin B 12 Urea

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Neonatal Screening Diagnostic Errors Pedigree Phlebotomy Blood Specimen Collection Diet, Protein-Restricted Reproducibility of Results Tandem Mass Spectrometry Reference Values DNA Mutational Analysis Mass Spectrometry Magnetic Resonance Spectroscopy Gas Chromatography-Mass Spectrometry

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes9

Mutation Homozygote Consanguinity Diet, Protein-Restricted Phenotype Mutation, Missense Base Sequence Algorithms Heterozygote

Information Science3

Molecular Sequence Data Base Sequence Algorithms

Named Groups1

Infant, Newborn

Health Care5

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

Geographicals1

Australian Capital Territory

Anatomy 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 Phenylketonurias Smith-Lemli-Opitz Syndrome Refractive Errors Homogentisate 1,2-Dioxygenase Infant, Newborn Candidiasis, Chronic Mucocutaneous Pyruvate Metabolism, Inborn Errors alpha-Galactosidase Homocystinuria Fabry Disease Australian Capital Territory Ornithine Carbamoyltransferase Deficiency Disease Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Hypophosphatasia Diagnostic Errors Hydroxocobalamin Methylmalonic Acid Methylmalonyl-CoA Mutase Pentanoic Acids Brain Diseases, Metabolic Oxidoreductases Acting on CH-CH Group Donors Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Porphyria, Erythropoietic Glutarates Mutation Carnitine Glutaryl-CoA Dehydrogenase Amidinotransferases Failure to Thrive Metal Metabolism, Inborn Errors Hyperargininemia Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Alkaptonuria Rare Diseases Citrullinemia Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mucopolysaccharidoses Metabolic Diseases Iron Metabolism Disorders Pyruvate Dehydrogenase Complex Deficiency Disease Adenylosuccinate Lyase Lysosomal Storage Diseases Neuroaxonal Dystrophies Ornithine-Oxo-Acid Transaminase Hyperoxaluria, Primary Acyl-CoA Dehydrogenase Genetic Diseases, Inborn Renal Tubular Transport, Inborn Errors Pedigree Uroporphyrinogen III Synthetase Argininosuccinate Lyase Homozygote Critical Pathways Phlebotomy Blood Specimen Collection Consanguinity Phenylalanine Hydroxylase Diet, Protein-Restricted Molecular Sequence Data Technology Assessment, Biomedical Ornithine Fibroblasts Acyl-CoA Dehydrogenases Reproducibility of Results Intellectual Disability Phenotype Mutation, Missense Tandem Mass Spectrometry Base Sequence Nervous System Diseases Immunologic Deficiency Syndromes Reference Values DNA Mutational Analysis Algorithms Amino Acids Oxidoreductases Liver Diseases Vitamin B 12 Mass Spectrometry Urea Liver Magnetic Resonance Spectroscopy Heterozygote Gas Chromatography-Mass Spectrometry

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