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Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg, Annemiek M J; Evers, Roeland A F; van Dam, Esther; de Vries, Maaike C; Janssen, Mirian C H; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J.
Afiliación
  • van Wegberg AMJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands.
  • Evers RAF; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands.
  • van Dam E; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands.
  • de Vries MC; Department of Paediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Janssen MCH; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Centre Groningen, the Netherlands.
  • van Spronsen FJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
Mol Genet Metab ; 129(3): 186-192, 2020 03.
Article en En | MEDLINE | ID: mdl-31924462
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina / Fenilcetonurias / Biopterinas / Pruebas Diagnósticas de Rutina Tipo de estudio: Clinical_trials / Guideline / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina / Fenilcetonurias / Biopterinas / Pruebas Diagnósticas de Rutina Tipo de estudio: Clinical_trials / Guideline / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos