Gaucher disease - a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies

• Main Authors: Alicja Kotula (Author), Natalia Kucy (Author), Adrianna Czachor (Author), Paula Kula (Author), Mateusz Haber (Author), Olga Grelewicz (Author), Elwira Servaas (Author), Adam Juśkiewicz (Author), Alicja Pilcicka (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase. This enzyme is crucial for breaking down glucocerebrosides, and its deficiency leads to their accumulation in the monocyte-macrophage system, f...