In recent years, there has been enormous scientific interest in the area of lysosomal storage disorders, especially the mucopolysaccharidoses. Advanced diagnostics, particularly in the field of molecular genetics, have become more widely available, and at the same time numerous new therapies have been developed for these so-called 'orphan diseases'. The current 4th edition of this book no longer only focuses on mucopolysaccharidoses, but also a number of similar diseases. Therefore, the new revised guide is intended to provide essential information not only for health professionals, but also the affected individuals themselves and their families. This book introduces the pathophysiology of these rare metabolic diseases and provides an overview of current treatment and management options such as bone marrow (stem cell) transplantation and enzyme replacement therapy. It will be a helpful companion for patients and their carers, and will also serve doctors and allied healthcare practitioners as a comprehensive reference work for the diagnosis and therapy of lysosomal storage diseases.
| Autorius: | Susanne Gerit Kircher |
| Serija: | UNI-MED Science |
| Leidėjas: | Uni-Med Verlag AG |
| Išleidimo metai: | 2024 |
| Knygos puslapių skaičius: | 196 |
| ISBN-10: | 3837416704 |
| ISBN-13: | 9783837416701 |
| Formatas: | Knyga kietu viršeliu |
| Kalba: | Anglų |
| Žanras: | Congenital diseases and disorders |
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