Malattie rare

Journal of Blood Medicine 2021:12 https://doi.org/10.2147/JBM.S279756 Novel Management and Screening Approaches for Haematological Complications of...

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...

Int. J. Neonatal Screen. 2025, 11, 14 https://doi.org/10.3390/ijns11010014 Newborn Screening for Gaucher Disease: Parental Stress and Psychological...

J. Clin. Med. 2024, 13, 6981. https://doi.org/10.3390/jcm13226981 The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving...

La porpora trombotica trombocitopenica congenita (cTTP) è una rara malattia autosomica recessiva causata da mutazioni del gene ADAMTS13 che...

La porpora trombotica trombocitopenica (TTP) è una patologia rara e potenzialmente letale, caratterizzata da anemia emolitica microangiopatica e...