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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes, Hanneke A; Molema, Femke; Langeveld, Mirjam; Janssen, Mirian C; Bosch, Annet M; van Spronsen, Francjan; Mulder, Margot F; Verhoeven-Duif, Nanda M; Jans, Judith J M; van der Ploeg, Ans T; Wagenmakers, Margreet A; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; de Vries, Maaike C; Langendonk, Janneke G; Williams, Monique; van Hasselt, Peter M.
Afiliación
  • Haijes HA; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Molema F; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Langeveld M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Janssen MC; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Bosch AM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Spronsen F; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Mulder MF; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Verhoeven-Duif NM; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • van der Ploeg AT; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Wagenmakers MA; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Rubio-Gozalbo ME; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Brouwers MCGJ; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • de Vries MC; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Langendonk JG; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Williams M; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van Hasselt PM; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
J Inherit Metab Dis ; 43(3): 424-437, 2020 05.
Article en En | MEDLINE | ID: mdl-31828787
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos