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2 results for "Maria Colonnese"

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  1. Journal Article

    Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study

    Claudia Santoro; Gabriele Martin; Gianluca Conza et al.

    Orphanet Journal of Rare Diseases, Vol. 21 No. 1 · 2026 · English · DOAJ Scopus

    Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder characterized by a potential multisystemic involvement. The musculoskeletal system is frequently affected (i.e.: scoliosis, thorax anomalies, tibial dysplasia). The segmental overgrowth of lower limb (SOLL) is rarely…

  2. Journal Article

    Disease Burden in Transfusion-Dependent β-Thalassemia (TDT) Patients and Caregivers in Italy: Results of a Cross-Sectional Descriptive Online Survey

    Marcella Contieri; Francesca Gatta; Maria Colonnese et al.

    Drugs - Real World Outcomes, Vol. 13 No. 2 · 2026 · English · DOAJ Scopus

    Abstract Background Patients with transfusion-dependent thalassemia (TDT) require lifelong blood transfusions; data on the psychosocial and economic impact on patients and their caregivers remain limited. The study aims to address this gap by describing the burden of TDT on pediatric, young, and…