Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation

Rostami, Parastoo; Talea, Ali

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.

Details

Published by: Springer

Publication Date: 2025-05-11

Format: Paperback

ISBN-13: 9789819647620

DOI: 10.1007/978-981-96-4763-7

Dimensions: 254cm x178cm

Pages: 68