Gaucher Disease E-Book

• Herausgeber: Springer Nature Singapore
• Kategorie: Fachliteratur
• Sprache: Englisch

Veröffentlichungsjahr: 2025

Beschreibung

This book covers all aspects of update diagnosis, treatment, and monitoring of Gaucher Disease. Since this disease is one of the most common lysosomal storage diseases, update information about all aspects of disorder is very important. Pathophysiology, prevalence, and genetic of this Gaucher disease have been discussed in full detail. Following, clinical manifestation of the disease at different ages and important methods for initial diagnosis and confirmation of disease include biochemical tests, enzyme activity assay and molecular analysis are fully described. In the last chapter of the book, ten patients with Gaucher disease are introduced.