Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by Floropyrimidines: A Case Report

by Raffaele Palmirotta, Domenica Lovero, Hervé Delacour, Hervé Delacour, Audrey Le Roy, Serge Cremades, Serge Cremades, Franco Silvestris
Published 2019-03-01

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.

by Herve Delacour, Sofya Lushchekina, Isabelle Mabboux, Aurore Bousquet, Franck Ceppa, Lawrence M Schopfer, Oksana Lockridge, Patrick Masson
Published 2014-01-01