Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overload.

Antonio Piga, Renzo Galanello, Gian Luca Forni, +12

PubMed

Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major.

Renzo Galanello, Antonio Piga, Gian Luca Forni, +12

PubMed

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Antonietta Zappu, Magli Olympia, Maria Barbara Lepori, +10

Journal of Pediatric Gastroenterology and Nutrition

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, +4

European Journal of Human Genetics

Allelic VariantHaplotype DeterminationGenotype-phenotype AssociationMolecular EcologyMedicine +11

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

Mario Lovicu, Valeria Dessì, Maria Barbara Lepori, +19

Journal of Gastroenterology

Bioactive MetalGeneticsPathogenesisMetalloproteinPathology +2

Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin

Maria Barbara Lepori, Mario Lovicu, Valentina Dessì, +16

Genetic Testing

GeneticsPathologyMolecular BiologyDisease Gene IdentificationGenomics +14

Efficient Strategy for Molecular Diagnosis of Wilson Disease in the Sardinian Population

Mario Lovicu, Valeria Dessì, Antonietta Zappu, +3

Clinical Chemistry

Same Pcr ConditionsGeneticsGenetic EpidemiologyDiagnosisPathology +25

Quality of life in Sardinian patients with transfusion-dependent Thalassemia: a cross-sectional study

Francesca Floris, Federica Comitini, GiovanBattista Leoni, +8

Quality of Life Research

Quality Of LifeTransfusion MedicineHematologyOutcomes ResearchCross-sectional Study +6

Thalassemia major between liver and heart: Where we are now

Carlo Dessì, GiovanBattista Leoni, Paolo Moi, +11

Blood Cells Molecules and Diseases

HepatologyPhysiologyHematologyMedicineHealth Sciences

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Maria-Barbara Lepori, Antonietta Zappu, Simona Incollu, +15

Molecular and Cellular Probes

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseNew Group +7