Gaucher Disease

£89.50

Gaucher Disease

An Updated Guide to Diagnosis and Management and patients presentation

Metabolism Medical genetics Clinical and internal medicine Diseases and disorders Paediatric medicine Gastrointestinal and colorectal surgery

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Collection: Medicine

Language: English

Published by: Springer

Published on: 10th May 2025

Format: LCP-protected ePub

ISBN: 9789819647637


Overview

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 and Genetics

Pathophysiology, prevalence, and genetic of this Gaucher disease have been discussed in full detail.

Clinical Manifestations and Diagnosis

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.

Case Studies

In the last chapter of the book, ten patients with Gaucher disease are introduced.

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