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

Softcover

ISBN 10: 9819647622 ISBN 13: 9789819647620

Verlag: Springer, 2025

Inhaltsangabe

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.

Über diesen Titel

Über die Autorin bzw. den Autor

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

Von der hinteren Coverseite

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 zur Ausgabe

• Verlag: Springer
• Erscheinungsdatum: 2025
• Sprache: Englisch
• ISBN 10: 9819647622
• ISBN 13: 9789819647620
• Einband: Taschenbuch
• Anzahl der Seiten: 75
• Herausgeber: Rostami Parastoo, Talea Ali
• Kontakt zum Hersteller: ProductSafety@springernature.com; ProductSafety@springernature.com; ; Poststr. 9; Darmstadt; 64293; Deutschland