Gaucher Disease
An Updated Guide to Diagnosis and Management and patients presentation
Seiten
2025
Springer Nature Switzerland AG (Verlag)
978-981-96-4762-0 (ISBN)
Springer Nature Switzerland AG (Verlag)
978-981-96-4762-0 (ISBN)
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This book covers all aspects of update diagnosis, treatment, and monitoring of Gaucher Disease. 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.
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.
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.
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
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.
| Erscheinungsdatum | 03.06.2025 |
|---|---|
| Zusatzinfo | 21 Illustrations, color; 2 Illustrations, black and white |
| Verlagsort | Cham |
| Sprache | englisch |
| Maße | 178 x 254 mm |
| Themenwelt | Medizinische Fachgebiete ► Chirurgie ► Viszeralchirurgie |
| Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie | |
| Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie | |
| Schlagworte | Bone Disease • Gaucher disease • Genetic Prevalence • Lysosomal Storage Diseases • pancytopenia • Parkinson disease • pathophysiology • Visceromegaly |
| ISBN-10 | 981-96-4762-2 / 9819647622 |
| ISBN-13 | 978-981-96-4762-0 / 9789819647620 |
| Zustand | Neuware |
| Informationen gemäß Produktsicherheitsverordnung (GPSR) | |
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Buch | Softcover (2025)
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