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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-20362666
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Amidoidrolases / Doenças Metabólicas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2010 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Amidoidrolases / Doenças Metabólicas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2010 Tipo de documento: Article