Molecular mechanisms of mild and moderate hemophilia A
1 min
22.01.2026
Abstract Mutations responsible for mild/moderate hemophilia A were extensively characterized over the last 15 years and more than 200 mutations have...
Infografica Screening e Registro Italiano Fabry Stroke
1 min
09.01.2026
Alcune caratteristiche cliniche facilmente riconoscibili, potrebbero aiutare a selezionare i pazienti per lo screening della Malattia di Fabry.
Nuovi approcci di gestione e screening delle complicanze ematologiche della malattia di Gaucher
1 min
23.12.2025
Journal of Blood Medicine 2021:12 https://doi.org/10.2147/JBM.S279756 Novel Management and Screening Approaches for Haematological Complications of...
Expert consensus guideline sulla diagnosi della malattia di Gaucher di tipo 1 nei pazienti adulti
1 min
23.12.2025
Italian Journal of Medicine 2024; volume 18:1748 Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients De Vivo et al...
Screening neonatale per la malattia di Gaucher: stress genitoriale e carico psicologico
1 min
23.12.2025
Int. J. Neonatal Screen. 2025, 11, 14 https://doi.org/10.3390/ijns11010014 Newborn Screening for Gaucher Disease: Parental Stress and Psychological...
I bisogni insoddisfatti delle malattie da accumulo lisosomiale: dalla diagnosi precoce ai percorsi assistenziali per i…
1 min
23.12.2025
J. Clin. Med. 2024, 13, 6981. https://doi.org/10.3390/jcm13226981 The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving...
Laboratory diagnosis of von Willebrand disease in the age of the new guidelines: considerations based on geography and…
1 min
23.10.2025
Abstract von Willebrand disease (VWD) is considered the most common bleeding disorder and arises from deficiency and/or defect in the adhesive plasma...
Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine…
1 min
23.10.2025
Abstract Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII)...
