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Synopsis: 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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Edited By Parini, Rossella and Andria, Generoso
Published by Editions John Libbey Eurotext, France (2010)
ISBN 10: 2742007792 ISBN 13: 9782742007790
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Book Description Editions John Libbey Eurotext, France, 2010. Cloth/Laminated Boards. Book Condition: Fine. 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. 184pp. N.B. Foredge of front board scratched. Bookseller Inventory # 028069

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Rossella Parini, Generoso Andria
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Book Description John Libbey Eurotext. Hardback. Book Condition: new. BRAND NEW, Lysosomal Storage Diseases: Early Diagnosis & New Treatments, Rossella Parini, Generoso Andria, 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. Bookseller Inventory # B9782742007790

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Parini, Rossella-Andria, Generoso
Published by JOHN LIBBEY (2010)
ISBN 10: 2742007792 ISBN 13: 9782742007790
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Book Description JOHN LIBBEY, 2010. Paperback. Book Condition: NEUF. Durant les 15 dernières années, d'énormes progrès ont été faits dans la recherche sur les maladies lysosomales. De maladies incurables, elles sont progressivement passées à des maladies pour lesquelles des traitements, ou tout du moins, des améliorations deviennent possibles.En plus des transfusions des cellules souches, d'autres approches thérapeutiques se développent.C'est administré le plus tôt possible que le traitement sera le plus efficace. C'est pourquoi il est essentiel que les pédiatres, chirurgiens et neurologues puissent repérer ces maladies dès les premiers signes ; il est donc important qu'ils en aient une bonne connaissance.La possibilité de dépister les maladies lysosomales dans les examens néonataux de routine est également à l'étude.L'objectif est aussi l'amélioration de la qualité de vie des patients via des centres spécialisés dans lesquelles des thérapeutiques pluridisciplinaires peuvent être mises en place.Cet ouvrage présente les dernières connnaissances épidémiologiques, biochimiques, génétiques, pathogénétiques et les aspects cliniques de quelques-unes de ces maladies ainsi que différentes options thérapeutiques - Nombre de page(s) : 184 - Poids : 535g - Langue : eng - Genre : Sciences Médecine en langue anglaise. Bookseller Inventory # N9782742007790

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Published by John Libbey Eurotext (2010)
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Book Description John Libbey Eurotext, 2010. Book Condition: Neuf. Bookseller Inventory # 9782742007790

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PARINI/ANDRIA
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Book Description JOHN LIBBEY. Soft Cover. Book Condition: NEW. JOHN LIBBEY (07/10/2010) Weight: 535g. / 1.18 lbs Binding Paperback Great Customer Service!. Bookseller Inventory # 9782742007790

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EDITED BY: ROSSELLA PARINI, GENEROSO ANDRIA .
Published by John Libbey Eurotext (FR) (2010)
ISBN 10: 2742007792 ISBN 13: 9782742007790
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Book Description John Libbey Eurotext (FR), 2010. Hardback. Book Condition: NEW. 9782742007790 This listing is a new book, a title currently in-print which we order directly and immediately from the publisher. Bookseller Inventory # HTANDREE0165352

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Rossella Parini
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Book Description Gazelle Distribution, 2010. Hardcover. Book Condition: Very Good. Bookseller Inventory # P022742007792

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Rossella Parini
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Book Description Gazelle Distribution, 2010. Hardcover. Book Condition: New. Bookseller Inventory # P112742007792

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