Inborn errors of metabolism

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies

High Frequency / Pregnancy / Humans / Pulmonary fibrosis / Female / Inborn errors of metabolism / Male / Acute respiratory distress syndrome / Infant / Long Chain Fatty Acid / Risk factors / Lung / Anti-inflammatory agents / HELLP Syndrome / Enzyme / Clinical Sciences / Newborn Infant / Multienzyme complexes / Risk Factors / Inborn errors of metabolism / Male / Acute respiratory distress syndrome / Infant / Long Chain Fatty Acid / Risk factors / Lung / Anti-inflammatory agents / HELLP Syndrome / Enzyme / Clinical Sciences / Newborn Infant / Multienzyme complexes / Risk Factors

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency

Genetics / Adolescent / Humans / Liver / Female / Inborn errors of metabolism / Male / Jaundice / Bilirubin / Pedigree / Phenotype / Genotype / Adult / Phenobarbital / The American / Bile / Inborn errors of metabolism / Male / Jaundice / Bilirubin / Pedigree / Phenotype / Genotype / Adult / Phenobarbital / The American / Bile

Epilepsia de inicio entre el mes y los tres meses de vida: nuestra experiencia de 11 años

Inborn errors of metabolism / Neurologia / Neurología

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

Galactosialidosis: A direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts

Humans / Inborn errors of metabolism / Proteins / Neuraminidase / Enzyme activity / Molecular weight / Human Fibroblasts / Biochemistry and cell biology / Molecular weight / Human Fibroblasts / Biochemistry and cell biology

Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México

Prevention / Mental Retardation / Inborn errors of metabolism / Developmental disabilities / Public health systems and services research

Congenital Creatine Transporter Deficiency

Magnetic Resonance Imaging / Magnetic Resonance Spectroscopy / Humans / Child / Female / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences

Cell Biological Consequences of Mitochondrial NADH: Ubiquinone Oxidoreductase Deficiency

Cell Biology / Mitochondria / Mitochondrial DNA / Humans / Animals / Inborn errors of metabolism / Cells / Skeletal Muscle / Current / Oxidative phosphorylation / Inborn errors of metabolism / Cells / Skeletal Muscle / Current / Oxidative phosphorylation

L-2-hydroxyglutaric aciduria: a report of 29 patients

Intelligence / Magnetic Resonance Imaging / Adolescent / Brain / Humans / Child / Female / Inborn errors of metabolism / TURKISH / Male / Infant / Follow-up studies / Adult / Brain Diseases / Child / Female / Inborn errors of metabolism / TURKISH / Male / Infant / Follow-up studies / Adult / Brain Diseases

Cranial MR spectroscopy of tetrahydrobiopterin deficiency

Intelligence / Creatine / Magnetic Resonance Spectroscopy / Antioxidants / Brain / Humans / Child / MR spectroscopy / Inborn errors of metabolism / Phenylketonuria / Inositol / D-Aspartic Acid / Clinical Sciences / White matter / Seizures / Intelligence quotient / Choline / Lactic Acid / Mr Imaging / Early Diagnosis / Neurosciences / Image Features / Humans / Child / MR spectroscopy / Inborn errors of metabolism / Phenylketonuria / Inositol / D-Aspartic Acid / Clinical Sciences / White matter / Seizures / Intelligence quotient / Choline / Lactic Acid / Mr Imaging / Early Diagnosis / Neurosciences / Image Features

Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

Decision Making / Energy Metabolism / Mitochondrial DNA / Humans / Mutation / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid

Tratamiento dietético de la trimetilaminuria

Humans / Female / Inborn errors of metabolism / Adult / Medicina Clinica

Aminoacylase I deficiency: A novel inborn error of metabolism

NMR Spectroscopy / Humans / Mutation / Animals / Inborn errors of metabolism / Male / Enzyme / Newborn Infant / Human Genome / Western blot / Protein Expression / Genetic Polymorphism / Gas Chromatography/mass Spectrometry / Arginine / Amino Acid Profile / Lymphocytes / Catalytic Activity / Glutamic Acid / Biochemistry and cell biology / DNA sequence / Male / Enzyme / Newborn Infant / Human Genome / Western blot / Protein Expression / Genetic Polymorphism / Gas Chromatography/mass Spectrometry / Arginine / Amino Acid Profile / Lymphocytes / Catalytic Activity / Glutamic Acid / Biochemistry and cell biology / DNA sequence

D-2-Hydroxyglutaric aciduria: Further clinical delineation

Magnetic Resonance Imaging / Brain / Humans / Inborn errors of metabolism / Clinical Sciences / White matter

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