High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl, Heiko; Kohlmüller, Dirk; Gramer, Gwendolyn; Garbade, Sven F; Syrbe, Steffen; Feyh, Patrik; Kölker, Stefan; Okun, Jürgen G; Hoffmann, Georg F; Opladen, Thomas

High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl, Heiko; Kohlmüller, Dirk; Gramer, Gwendolyn; Garbade, Sven F; Syrbe, Steffen; Feyh, Patrik; Kölker, Stefan; Okun, Jürgen G; Hoffmann, Georg F; Opladen, Thomas.

Afiliação

Brennenstuhl H; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Kohlmüller D; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Gramer G; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Garbade SF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Syrbe S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Feyh P; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Kölker S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Okun JG; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Opladen T; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.

J Inherit Metab Dis ; 43(3): 602-610, 2020 05.

Article em En | MEDLINE | ID: mdl-31849064

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos/sangue; Descarboxilases de Aminoácido-L-Aromático/deficiência; Teste em Amostras de Sangue Seco/métodos; Triagem Neonatal; Tirosina/análogos & derivados; Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico; Aminoácidos; Descarboxilases de Aminoácido-L-Aromático/sangue; Estudos de Casos e Controles; Feminino; Ensaios de Triagem em Larga Escala; Humanos; Recém-Nascido; Masculino; Espectrometria de Massas em Tandem; Tirosina/sangue

Palavras-chave

3-O-methyldopa; AADC deficiency; dried blood spot; newborn screening; tandem mass spectrometry

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Descarboxilases de Aminoácido-L-Aromático / Tirosina / Triagem Neonatal / Teste em Amostras de Sangue Seco / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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