Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek, Kevin; Bouva, Marelle J; Schielen, Peter C J I; Vaz, Frédéric M; Heijboer, Annemieke C; de Jonge, Robert; Boelen, Anita; Bosch, Annet M

Stroek, Kevin; Bouva, Marelle J; Schielen, Peter C J I; Vaz, Frédéric M; Heijboer, Annemieke C; de Jonge, Robert; Boelen, Anita; Bosch, Annet M.

Afiliação

Stroek K; Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: k.stroek@amc.uva.nl.
Bouva MJ; Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands. Electronic address: marelle.bouva@rivm.nl.
Schielen PCJI; Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands. Electronic address: peter.schielen@rivm.nl.
Vaz FM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: f.m.vaz@amc.uva.nl.
Heijboer AC; Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Clinical Chemistry, Endocrine Laboratory, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: a.c.heijboer@amc.uva.nl.
de Jonge R; Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: r.jonge@amc.uva.nl.
Boelen A; Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.boelen@amc.uva.nl.
Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.m.bosch@amc.uva.nl.

Mol Genet Metab ; 124(1): 50-56, 2018 05.

Article em En | MEDLINE | ID: mdl-29580649

Assuntos

Galactosemias/diagnóstico; Triagem Neonatal/métodos; Guias de Prática Clínica como Assunto; Catarata/prevenção & controle; Galactose/sangue; Galactosemias/epidemiologia; Humanos; Recém-Nascido; Países Baixos/epidemiologia; Ensaios Clínicos Controlados Aleatórios como Assunto; Estudos Retrospectivos

Palavras-chave

Galactokinase deficiency; Newborn screening; Positive predictive value; Total galactose

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Guias de Prática Clínica como Assunto / Galactosemias Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies / Systematic_reviews Limite: Humans / Newborn País/Região como assunto: Europa Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article

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