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

• Main Authors: Karolina M. Stepien (Author), Irena Žnidar (Author), Beata Kieć-Wilk (Author), Angel Jones (Author), Daniela Castillo-García (Author), Magy Abdelwahab (Author), Shoshana Revel-Vilk (Author), Ella Lineham (Author), Derralynn Hughes (Author), Uma Ramaswami (Author), Tanya Collin-Histed (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...