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Inborn errors of metabolism
Inborn errors of metabolism
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease
Genetics / Humans / Inborn errors of metabolism / American / D-Aspartic Acid / Clinical Sciences / Medical / Clinical Sciences / Medical
The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients
Pediatrics / Enzyme Inhibitors / Adolescent / Intellectual Disability / Case Report / Humans / Child / Female / Inborn errors of metabolism / Male / Infant / Developmental disabilities / Differential Diagnosis / Adult / Vigabatrin / Gamma-Aminobutyric Acid / Motor Skills / Humans / Child / Female / Inborn errors of metabolism / Male / Infant / Developmental disabilities / Differential Diagnosis / Adult / Vigabatrin / Gamma-Aminobutyric Acid / Motor Skills
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
Magnetic Resonance Imaging / Transcription Regulation / Sequence Analysis / Brain development / Brain / Humans / Cerebellum / Cerebral Cortex / Female / Inborn errors of metabolism / Infant / Skin / Eating / Cortical Development / Clinical Sciences / Newborn Infant / Middle Aged / Agenesis of the Corpus Callosum / White matter / Neuronal Migration / Metabolic Acidosis / Genome sequence / Metabolic pathway / Human Fibroblasts / Humans / Cerebellum / Cerebral Cortex / Female / Inborn errors of metabolism / Infant / Skin / Eating / Cortical Development / Clinical Sciences / Newborn Infant / Middle Aged / Agenesis of the Corpus Callosum / White matter / Neuronal Migration / Metabolic Acidosis / Genome sequence / Metabolic pathway / Human Fibroblasts
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 / Biochemistry and cell biology / Glycoproteins / Lipoprotein(a) / apolipoprotein A-I / Middle Aged / Genotype / Adult / Biological markers / Apolipoprotein A-II / Lipid / Two dimensional Gel Electrophoresis / Biochemistry and cell biology
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
Adolescent / Multidisciplinary / Early Childhood / Humans / Child / Female / Inborn errors of metabolism / Central Nervous System / Electron Transport / Neuromuscular diseases / Cytochromes / Reference Values / Oxygen Consumption / Coenzyme Q / Tissue Specificity / Female / Inborn errors of metabolism / Central Nervous System / Electron Transport / Neuromuscular diseases / Cytochromes / Reference Values / Oxygen Consumption / Coenzyme Q / Tissue Specificity
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism
Genetics / Cognitive Science / Pediatrics / Transcranial Magnetic Stimulation / Neurogenetics / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet
Documento de consenso de indicaciones de trasplante hepático
Liver diseases / Humans / Child / Inborn errors of metabolism / Infant / Liver Transplantation / Waiting lists / Aged / Middle Aged / Adult / Liver Transplantation / Waiting lists / Aged / Middle Aged / Adult
Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos
Inborn errors of metabolism / Medicina Clinica
Aportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo. Los comienzos de la Tría Neonatal en España, con referencia al Programa de Galicia.
Chromatography / Inborn errors of metabolism / Newborn Screening / Congenital Adrenal Hyperplasia / Congenital Hypothyroidism / Lisosomal Disorders
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)
Magnetic Resonance Imaging / Intellectual Disability / Biological Sciences / Aggressive Behavior / Biological Psychiatry / Serotonin / Dopamine / Humans / Cerebellum / Hallucinations / Female / Inborn errors of metabolism / Male / Biological / High Pressure Liquid Chromatography / Atrophy / Adult / Globus Pallidus / Sleep Disorder / Clinical Presentation / Glutamic Acid / Gamma-Aminobutyric Acid / Serotonin / Dopamine / Humans / Cerebellum / Hallucinations / Female / Inborn errors of metabolism / Male / Biological / High Pressure Liquid Chromatography / Atrophy / Adult / Globus Pallidus / Sleep Disorder / Clinical Presentation / Glutamic Acid / Gamma-Aminobutyric Acid
[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]
Cognitive Science / Coma / Humans / Inborn errors of metabolism / Male / Clinical Sciences / Newborn Infant / Clinical Sciences / Newborn Infant
Pericardial effusion in primary systemic carnitine deficiency
Polymorphism / Humans / Mutation / Female / Inborn errors of metabolism / Infant / Clinical Sciences / L-carnitine / Infant / Clinical Sciences / L-carnitine
Biochemical Correction of Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD
Liver / Medical Biotechnology / Mice / Animals / Inborn errors of metabolism / Cytomegalovirus / Clinical Sciences / L-carnitine / Portal vein / Cytomegalovirus / Clinical Sciences / L-carnitine / Portal vein
Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Biochemistry / Genetics / Adolescent / Medicine / Genetic Diversity / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin
D-2-hydroxyglutaric aciduria: Case report and biochemical studies
Asthma / Case Report / Humans / Inborn errors of metabolism / Male / Gas Chromatography / Clinical Sciences / Metabolic Disorder / Syndrome / Aminolevulinic Acid / Gas Chromatography / Clinical Sciences / Metabolic Disorder / Syndrome / Aminolevulinic Acid
Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria
Molecular Genetics / Transgenic Mice / Brain / Kidney / Liver / Mice / Female / Animals / Inborn errors of metabolism / Gene transfer techniques / Male / Liposomes / Luciferase / Lung / Enzyme / Clinical Sciences / Gene Delivery / Mouse Model / Blood Flow / Abdominal Pain / Polyethylenimine / Polyethyleneimine / Portal vein / Mice / Female / Animals / Inborn errors of metabolism / Gene transfer techniques / Male / Liposomes / Luciferase / Lung / Enzyme / Clinical Sciences / Gene Delivery / Mouse Model / Blood Flow / Abdominal Pain / Polyethylenimine / Polyethyleneimine / Portal vein
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