Gaucher's disease - a review of the most important information about the disease in Paediatrics

Gaucher's disease - a review of the most important information about the disease in Paediatrics

  Gaucher disease is an autosomal recessive spirochete disease caused by a deficiency of the enzyme glucocerebrosidase. A mutation in the GBA1 gene induces the accumulation of abnormal products in macrophages resulting in the transformation into Gaucher cells in many organs. There are three main...

Full description

Saved in:
Bibliographic Details
Main Authors: Jakub Jarmołowicz, Paulina Krzeszowska, Aleksandra Kujawa, Karolina Krochmal, Adrianna Samoraj, Jakub Zajączkowski, Karolina Marrodán-Wojtczak, Jan Wilk, Kacper Stępniak, Radosław Kuźma
Format: Article
Language:English
Published: Nicolaus Copernicus University in Toruń 2025-07-01
Series:Quality in Sport
Subjects:
Gaucher disease
GBA1
Gaucher cells
ERT
SRT
Online Access:https://apcz.umk.pl/QS/article/view/61358
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://apcz.umk.pl/QS/article/view/61358

Similar Items