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Maria Domenica Cappellini

Researcher at University of Milan

Publications -  570
Citations -  21441

Maria Domenica Cappellini is an academic researcher from University of Milan. The author has contributed to research in topics: Thalassemia & Deferasirox. The author has an hindex of 71, co-authored 518 publications receiving 18668 citations. Previous affiliations of Maria Domenica Cappellini include Centra & Vita-Salute San Raffaele University.

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Emerging drugs in randomized controlled trials for sickle cell disease: are we on the brink of a new era in research and treatment?

TL;DR: An overview of the key studies of new therapeutic options for SCD is offered and phase II and phase III clinical trials investigating pathophysiology-based novel agents show promising results in the clinical management of SCD acute events.
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G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype

TL;DR: This paper describes the mutations responsible for the Ferrara I variant in an Italian man with a family history of favism, from the Po delta, and confirms the mutation at nucleotide 202 was confirmed by NlaIII digestion of a polymerase chain reaction amplified DNA fragment spanning 109 bp of exon IV.
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Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

TL;DR: Length of ERT is inversely correlated with liver disease in GD patients, suggesting a beneficial effect of ERTs on liver fibrosis, and GD patients on stable ERT should be monitored for metabolic complications, since MetS features may enhance liver disease progression despite optimal GD control.
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Thalassemia trait and arterial thromboembolic events: a systematic review and a meta-analysis of the literature

TL;DR: β‐Thalassemia trait may act as a protective factor against the development of arterial cardiovascular and cerebrovascular disease in male subjects and larger prospective studies are necessary to confirm these preliminary findings.
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Progression of liver fibrosis can be controlled by adequate chelation in transfusion-dependent thalassemia (TDT).

TL;DR: Patients with transfusion-dependent beta-thalassemia major could benefit from regular non-invasive assessment of liver fibrosis by TE to indirectly monitor treatment adequacy and therapeutic compliance.