Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Fleger, M; Willomitzer, J; Meinsma, R; Alders, M; Meijer, J; Hennekam, R C M; Huemer, M; van Kuilenburg, A B P

Fleger, M; Willomitzer, J; Meinsma, R; Alders, M; Meijer, J; Hennekam, R C M; Huemer, M; van Kuilenburg, A B P.

Afiliação

Fleger M; Department of Paediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Straße 2, 6900, Bregenz, Austria.
Willomitzer J; Department of Paediatrics, Krankenhaus Dornbirn, Dornbirn, Austria.
Meinsma R; Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, and Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
Alders M; Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, and Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
Meijer J; Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, and Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
Hennekam RCM; Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, and Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
Huemer M; Department of Paediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Straße 2, 6900, Bregenz, Austria. martina.huemer@lkhb.at.
van Kuilenburg ABP; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. martina.huemer@lkhb.at.

JIMD Rep ; 37: 49-54, 2017.

Article em En | MEDLINE | ID: mdl-28275972

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria

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