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Identification of a novel deletion in UDP-glucuronosyltransferase gene in a pat...

Costa, Elisio; Vieira, Emilia; dos Santos, Rosario; Lopes, Ana Isabel; Saldanha, Maria Joana; Brites, Dora

Date: 2009   |   Origin: Repositório da Universidade de Lisboa
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Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and G...

Costa, Elísio; Vieira, Emilia; Cleto, Esmeralda; Cabeda, José M; Pinho, Luciana; Coimbra, Eduarda; Dos Santos, Rosário; Barbot, José

The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. The A(TA)nTAA region in the promoter of the UGT1A1 gene was analysed in 20 children with G6PD deficiency. Fourteen of these children had the African type variant (G6PDA-) a...

Date: 2002   |   Origin: Acta Médica Portuguesa
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