Gaucher Disease : An Updated Guide to Diagnosis and Management and patients presentation / edited by Parastoo Rostami, Ali Talea.

Format:

Book

Contributor:

Rostami, Parastoo., Editor.

Talea, Ali., Editor.

Language:

English

Subjects (All):

Metabolism--Disorders.

Metabolism.

Gastroenterology.

Medical genetics.

Internal medicine.

Pediatrics.

Metabolic Disease.

Medical Genetics.

Internal Medicine.

Local Subjects:

Metabolic Disease.

Gastroenterology.

Medical Genetics.

Internal Medicine.

Pediatrics.

Physical Description:

1 online resource (VII, 68 p. 23 illus., 21 illus. in color.)

Edition:

1st ed. 2025.

Place of Publication:

Singapore : Springer Nature Singapore : Imprint: Springer, 2025.

Summary:

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.

Contents:

Chapter 1: Introduction

Chapter 2: Clinical Manifestations

Chapter 3: Diagnosis of gaucher disease

Chapter 4: Initial assessment

Chapter 5: Treatment of Gaucher disease.-Chapter 6: Patients presentation.

ISBN:

981-9647-63-0

OCLC:

1524422622