Lysosomal Storage Diseases

Name: Lysosomal Storage Diseases
Brand: John Libbey Eurotext
SKU: 9782742007790
Price: 28816 HUF
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Early Diagnosis & New Treatments

Szerző: PARINI/ANDRIA

Nyelv:

Kötés: Kemény kötésű

Kiadó: John Libbey Eurotext

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The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in...

Információk a könyvről

Szerző

PARINI/ANDRIA

Nyelv

Angol

Kötés

Könyv - Kemény kötésű

Kiadva

2010

oldal

186

EAN

9782742007790

ISBN

9782742007790

Enbook ID

06433894

Kiadó

John Libbey Eurotext

Súly

534

Méretek

176 x 248 x 15

Teljes leírás

The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialised centre is emphasised in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

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Lysosomal Storage Diseases

Early Diagnosis & New Treatments

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