Antonietta Zappu

TL;DR: Deferasirox showed a plasma elimination half-life of 8-16 hours, supporting its once-daily administration, and was well tolerated and showed similar efficacy to DFO 40 mg/kg in terms of decreases in LIC.

TL;DR: The dose employed was too low to induce a net negative iron balance in this regularly transfused population of pediatric patients with transfusion-dependent beta-thalassemia major, and pharmacokinetic data support a once-daily dosing regimen based on body weight.

TL;DR: Loredana Boccone,* Valentina Dessı̀, Antonietta Zappu, Silvia Piga, Maria Bonaria Piludu, Marco Rais, Carlo Massidda, Stefano De Virgiliis, Antonio Cao, and Georgios Loudianos Ospedale Regionale Microcitemie, Cagliari.

TL;DR: A new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals is used.

TL;DR: In this article, the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin using the SSCP and sequencing methods, identified 71 disease-causing mutations Twentyfour were novel, while 19 more mutations already described, were identified in new populations in this study.