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Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
van Kuilenburg, André B P; Meijer, Judith; Meinsma, Rutger; Pérez-Dueñas, Belén; Alders, Marielle; Bhuiyan, Zahurul A; Artuch, Rafael; Hennekam, Raoul C M.
Afiliación
  • van Kuilenburg ABP; Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl.
  • Meijer J; Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Meinsma R; Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Pérez-Dueñas B; Departments of Neuropediatrics and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain.
  • Alders M; Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Bhuiyan ZA; Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Artuch R; Service de Médecine Génétique, Laboratoires de Médecine Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Hennekam RCM; Departments of Neuropediatrics and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain.
JIMD Rep ; 45: 65-69, 2019.
Article en En | MEDLINE | ID: mdl-30349988
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos