Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

• Auteurs principaux: Karolina M. Stepien (Auteur), Irena Žnidar (Auteur), Beata Kieć-Wilk (Auteur), Angel Jones (Auteur), Daniela Castillo-García (Auteur), Magy Abdelwahab (Auteur), Shoshana Revel-Vilk (Auteur), Ella Lineham (Auteur), Derralynn Hughes (Auteur), Uma Ramaswami (Auteur), Tanya Collin-Histed (Auteur)
• Format: Livre
• Publié: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

IntroductionGaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase. The most common subtype in Europe and the USA, type 1 (GD1), is characterized by fatigue, cytopenia, splenomegaly, hepatomegaly, bone disease, and rarel...