Inborn errors of metabolism

Deficiencia de glucosa-6-fosfato deshidrogenasa: De lo clínico a lo bioquímico

Inborn errors of metabolism

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P450 oxidoreductase deficiency

Genetics / Biology / Drug metabolism / STEROIDS / Multidisciplinary / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones

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P450 oxidoreductase deficiency

Genetics / Biology / Drug metabolism / STEROIDS / Multidisciplinary / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones

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Apolipoprotein composition of HDL in cholesteryl ester transfer protein deficiency

Apolipoproteins / Humans / Female / Inborn errors of metabolism / Male / Glycoproteins / Lipoprotein(a) / apolipoprotein A-I / Middle Aged / Genotype / Adult / Biological markers / Apolipoprotein A-II / Lipid / Two dimensional Gel Electrophoresis / Lipoprotein a / Biochemistry and cell biology / Glycoproteins / Lipoprotein(a) / apolipoprotein A-I / Middle Aged / Genotype / Adult / Biological markers / Apolipoprotein A-II / Lipid / Two dimensional Gel Electrophoresis / Lipoprotein a / Biochemistry and cell biology

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Isolated sulfite oxidase deficiency

Ophthalmology / Magnetic Resonance Imaging / Family / Humans / Inborn errors of metabolism / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases

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Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients

Genetics / Portugal / Humans / Child / Female / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence

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Adenine Phosphoribosyltransferase Deficiency

Kidney diseases / Enzyme Inhibitors / Adolescent / Humans / Child / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests

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Adenine phosphoribosyltransferase deficiency in children

Kidney diseases / Enzyme Inhibitors / Adolescent / Humans / Child / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests / Female / Animals / Inborn errors of metabolism / Male / Young Adult / Infant / Pediatric Nephrology / Pediatric / Phenotype / Recurrence / Clinical Sciences / Urolithiasis / Retrospective Studies / Prognosis / Biological markers / Disease Progression / Adenine / Allopurinol / Predictive value of tests

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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

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Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism

Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry

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Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism

Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry

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A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

Electroencephalography / Japan / Magnetic Resonance Spectroscopy / Humans / MR spectroscopy / Female / Inborn errors of metabolism / Magnetic Resonance / Central Nervous System / Enzyme / Clinical Sciences / Family Health / Time Factors / Basal ganglia / X ray Computed Tomography / Chromosomes / Protons / Female / Inborn errors of metabolism / Magnetic Resonance / Central Nervous System / Enzyme / Clinical Sciences / Family Health / Time Factors / Basal ganglia / X ray Computed Tomography / Chromosomes / Protons

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Terapia celular hepática en el tratamiento de las metabolopatías congénitas en niños

Humans / Child / Female / Inborn errors of metabolism / Male / Infant / Hepatocytes / Infant / Hepatocytes

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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

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Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment

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Normal HPRT coding region in complete and partial HPRT deficiency

Gene regulation / Molecular Genetics / Adolescent / real time PCR / Humans / Child / Inborn errors of metabolism / Male / Polymerase Chain Reaction / Clinical Sciences / Uric Acid / Human Genome / mRna expression levels / Spectrum / Adult / Base Sequence / Gene Expression Regulation / Child / Inborn errors of metabolism / Male / Polymerase Chain Reaction / Clinical Sciences / Uric Acid / Human Genome / mRna expression levels / Spectrum / Adult / Base Sequence / Gene Expression Regulation

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