A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.

Brussel, W; van Kuilenburg, A B P; Janssens, P M W

Brussel, W; van Kuilenburg, A B P; Janssens, P M W.

Affiliation

Brussel W; Department of Pediatrics, Hospital Rijnstate Arnhem, Arnhem, The Netherlands. WBrussel@alysis.nl

Nucleosides Nucleotides Nucleic Acids ; 25(9-11): 1099-102, 2006.

Article in En | MEDLINE | ID: mdl-17065071

Subject(s)

Dihydrouracil Dehydrogenase (NADP)/genetics; Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis; Developmental Disabilities; Female; Homozygote; Humans; Infant; Leukocytes, Mononuclear/metabolism; Muscle Hypotonia; Purine-Pyrimidine Metabolism, Inborn Errors/genetics; Thymine/urine; Uracil/urine; Vomiting

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Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors / Dihydrouracil Dehydrogenase (NADP) Type of study: Diagnostic_studies Limits: Female / Humans / Infant Language: En Journal: Nucleosides Nucleotides Nucleic Acids Journal subject: BIOQUIMICA Year: 2006 Type: Article Affiliation country: Netherlands

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