Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.

Boy, Nikolas; Mengler, Katharina; Heringer-Seifert, Jana; Hoffmann, Georg F; Garbade, Sven F; Kölker, Stefan

Boy, Nikolas; Mengler, Katharina; Heringer-Seifert, Jana; Hoffmann, Georg F; Garbade, Sven F; Kölker, Stefan.

Afiliação

Boy N; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. nikolas.boy@med.uni-heidelberg.de.
Mengler K; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Heringer-Seifert J; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Garbade SF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Kölker S; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Genet Med ; 23(1): 13-21, 2021 01.

Article em En | MEDLINE | ID: mdl-32981931

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos; Encefalopatias Metabólicas; Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico; Erros Inatos do Metabolismo dos Aminoácidos/genética; Erros Inatos do Metabolismo dos Aminoácidos/terapia; Encefalopatias Metabólicas/diagnóstico; Encefalopatias Metabólicas/genética; Encefalopatias Metabólicas/terapia; Glutaril-CoA Desidrogenase/deficiência; Glutaril-CoA Desidrogenase/genética; Humanos; Recém-Nascido; Triagem Neonatal

Palavras-chave

glutaric acidemia type 1; glutaric aciduria type 1; newborn screening; outcome; meta-analysis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies / Systematic_reviews Limite: Humans / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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