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

• Hauptverfasser: Karolina M. Stepien (Verfasst von), Irena Žnidar (Verfasst von), Beata Kieć-Wilk (Verfasst von), Angel Jones (Verfasst von), Daniela Castillo-García (Verfasst von), Magy Abdelwahab (Verfasst von), Shoshana Revel-Vilk (Verfasst von), Ella Lineham (Verfasst von), Derralynn Hughes (Verfasst von), Uma Ramaswami (Verfasst von), Tanya Collin-Histed (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...