This item is printed on demand - Print on Demand Titel. Neuware -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.Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 76 pp. Englisch.

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Bibliographic Details

Title: Gaucher Disease
Publisher: Springer, Springer Mai 2025
Publication Date: 2025
Language: English
ISBN 10: 9819647622
ISBN 13: 9789819647620
Binding: Taschenbuch
Condition: Neu
Dimensions: 254 millimeters width by 178 millimeters height by 5 millimeters depth
Weight: 163 grams

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Synopsis

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.

About the Author

Parastoo Rostami, MD, Pediatric Endocrinologist

Growth and Development Research Center, Department of Endocrinology and Metabolism, Pediatric Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Ali Talea, MD. Pediatric Endocrinologist.

Metabolic Disorders Research Center, Molecular-Cellular Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences(TUMS), Tehran, Iran

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