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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg, André B P; Dobritzsch, Doreen; Meijer, Judith; Meinsma, Rutger; Benoist, Jean-François; Assmann, Birgit; Schubert, Susanne; Hoffmann, Georg F; Duran, Marinus; de Vries, Maaike C; Kurlemann, Gerd; Eyskens, François J M; Greed, Lawrence; Sass, Jörn Oliver; Schwab, K Otfried; Sewell, Adrian C; Walter, John; Hahn, Andreas; Zoetekouw, Lida; Ribes, Antonia; Lind, Suzanne; Hennekam, Raoul C M.
Affiliation
  • van Kuilenburg AB; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, 1105 AZ Amsterdam, the Netherlands. a.b.vanKuilenburg@amc.uva.nl
Biochim Biophys Acta ; 1802(7-8): 639-48, 2010.
Article in En | MEDLINE | ID: mdl-20362666
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amidohydrolases / Metabolic Diseases Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Biochim Biophys Acta Year: 2010 Document type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amidohydrolases / Metabolic Diseases Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Biochim Biophys Acta Year: 2010 Document type: Article Affiliation country: Netherlands