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Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker, Jeannette C; Kok, Irene L; Ferdinandusse, Sacha; van der Pol, W Ludo; Cuppen, Inge; Bosch, Annet M; Langeveld, Mirjam; Derks, Terry G J; Williams, Monique; de Vries, Maaike; Mulder, Margot F; Gozalbo, Estela R; de Sain-van der Velden, Monique G M; Rennings, Alexander J; Schielen, Peter J C I; Dekkers, Eugenie; Houtkooper, Riekelt H; Waterham, Hans R; Pras-Raves, Mia L; Wanders, Ronald J A; van Hasselt, Peter M; Schoenmakers, Marja; Wijburg, Frits A; Visser, Gepke.
Afiliação
  • Bleeker JC; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kok IL; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Ferdinandusse S; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Pol WL; Department of Internal Medicine and Dermatology, Dietetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Cuppen I; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Bosch AM; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Langeveld M; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Derks TGJ; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Williams M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • de Vries M; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Mulder MF; Center for Lysosomal and Metabolic Disorders, Department of Pediatrics, Sophia Children's Hospital EMC, Rotterdam, The Netherlands.
  • Gozalbo ER; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Sain-van der Velden MGM; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Rennings AJ; Department of Pediatrics and Clinical Genomics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Schielen PJCI; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Dekkers E; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Houtkooper RH; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.
  • Waterham HR; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.
  • Pras-Raves ML; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Wanders RJA; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • van Hasselt PM; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Schoenmakers M; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Wijburg FA; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Visser G; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
J Inherit Metab Dis ; 42(3): 414-423, 2019 05.
Article em En | MEDLINE | ID: mdl-30761551
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças Mitocondriais / Acil-CoA Desidrogenase de Cadeia Longa / Síndrome Congênita de Insuficiência da Medula Óssea / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças Mitocondriais / Acil-CoA Desidrogenase de Cadeia Longa / Síndrome Congênita de Insuficiência da Medula Óssea / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos