Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Chen, Bee Chin; Mohd Rawi, Rowani; Meinsma, Rutger; Meijer, Judith; Hennekam, Raoul C M; van Kuilenburg, André B P

Chen, Bee Chin; Mohd Rawi, Rowani; Meinsma, Rutger; Meijer, Judith; Hennekam, Raoul C M; van Kuilenburg, André B P.

Afiliación

Chen BC; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Mohd Rawi R; School of Medical Sciences, University of Sciences Malaysia, Kelantan, Malaysia.
Meinsma R; Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.
Meijer J; Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.
Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Kuilenburg AB; Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.

Mol Syndromol ; 5(6): 299-303, 2014 Dec.

Article en En | MEDLINE | ID: mdl-25565930

Palabras clave

Dihydropyrimidine dehydrogenase deficiency; MRI abnormality; Protein folding

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Mol Syndromol Año: 2014 Tipo del documento: Article País de afiliación: Malasia Pais de publicación: Suiza

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