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City Kowloon / / Company Stroomer AE / Van Kuilenburg AB / / Country United Kingdom / / Facility Princess Margaret Hospital / / IndustryTerm Magnetic resonance imaging / end products / invariant splice donor site / cancer treatment / splice-donor site / degradation products / splice mutation site / / MedicalCondition microcephaly / mental retardation / cancer / metabolic diseases / seizures / Dihydropyrimidine Dehydrogenase Deficiency / autism / convulsion / hypotonia / neonatal seizure / cerebral dysfunction / poor seizure / partial deficiency / complete DPD deficiency / severe bilateral hearing loss / lethargy / seizure / e.g. seizures / DPD deficiency / hypoxic encephalopathy / disorder / hypotonia / dihydropyr imidine dehydrogenase deficiency / speech delay / autosomal recessive disorder / unexplained cerebral dysfunction / deficiency / suspected sepsis / difficult seizure / human dihydropyrimidine dehydrogenase deficiency / repeated seizures / Neonatal Seizure / respiratory distress / enzyme deficiency / autosomal recessive disease / / MedicalTreatment antibiotics / / Organization FRCP Department of Pathology / Princess Margaret Hospital / Department of Paediatrics and Adolescent Medicine / / Person Chi Kok / MRCPCH FHKAM / / Product glycine / fluorouracil / / Technology Genomics / Magnetic resonance imaging / tomography / hybridization / spectroscopy / gas chromatography / genotype / gene analysis / MRI / / SocialTag 
HK J Paediatr (new series) 2004;9:[removed]Dihydropyrimidine Dehydrogenase Deficiency: A Baby Boy with Ocular Abnormalities, Neonatal Seizure and Global Developmental Delay EKC YAU, CC SHEK, KY CHAN, AYW CHAN