Newborn Screening

Identificación del consumo de alcohol y derivados de cocaína en el embarazo mediante el análisis de meconio

Newborn Screening / Crack Cocaine / Pasta Base De Cocaína / Pasta Base

Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa en Cataluña. Estudio piloto en población anónima no relacionada

Sickle Cell Disease / Newborn Screening / Early Detection / Medicina Clinica

Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

Molecular Genetics / South Africa / Humans / Female / Male / Infant / Incidence / Newborn Screening / Clinical Sciences / South African / Newborn Infant / Organic Acid / Infant / Incidence / Newborn Screening / Clinical Sciences / South African / Newborn Infant / Organic Acid

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

Molecular Genetics / South Africa / Humans / Female / Male / Infant / Incidence / Newborn Screening / Clinical Sciences / South African / Newborn Infant / Organic Acid / Infant / Incidence / Newborn Screening / Clinical Sciences / South African / Newborn Infant / Organic Acid

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

DNA / Humans / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / Brain Damage / Clinical Sciences / Newborn Infant / Brain Damage

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

Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa en Cataluña. Estudio piloto en población anónima no relacionada

Sickle Cell Disease / Newborn Screening / Early Detection / Medicina Clinica

Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa en Cataluña. Estudio piloto en población anónima no relacionada

Sickle Cell Disease / Newborn Screening / Early Detection / Medicina Clinica

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

Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric Cardiology / Echocardiography / Case Report / Humans / Electron Transfer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer

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

Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980–1996

France / Humans / Female / Feasibility Studies / Male / Newborn Screening / Newborn Infant / Congenital Adrenal Hyperplasia / Sex Factors / Age Factors / Radioimmunoassay / Newborn Screening / Newborn Infant / Congenital Adrenal Hyperplasia / Sex Factors / Age Factors / Radioimmunoassay

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

Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric Cardiology / Echocardiography / Case Report / Humans / Electron Transfer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer / Male / Infant / Differential Diagnosis / Newborn Screening / Myocardium / Fatty Acid / Biological markers / Amino Acid Profile / Metabolic Acidosis / Cardiomyopathies / Autosomal Recessive / Mass Spectrometer

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