Inherited Metabolic Diseases: A Clinical Approach - Couverture rigide

Couverture rigide

ISBN 10 : 3540747222 ISBN 13 : 9783540747222

Editeur : Springer-Verlag Berlin and Heidelberg GmbH & Co. K, 2009

Synopsis

The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds lo- cally through algorithms from questions to answers. Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. To utilize as broad an experience as possible, its concept has been extended from a pocket-size book written jointly by ? ve colleagues to a textbook combining the experience of over 20 expert metabolic physicians. It is now imbedded in the environment of Springer Pediatric Metabolic Medicine in addition to the disease-based approach in Inborn Metabolic Diseases edited by John Fernandes and colleagues as well the series edited by Nenad Blau and colleagues on speci? c biochemical diagnostics, laboratory methods, and treatment. A system and symptom-based approach to inherited metabolic diseases should help colleagues from different specialties to diagnose their patients and to come to an optimal program of therapy. For metabolic and genetic specialists, this book is designed as a quick reference for what may be (even for the specialist) infrequently encountered presentations. Heidelberg, Germany Georg F.

A propos du livre

Présentation de l'éditeur

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. Inherited Metabolic Disease A Clinical Approach is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients.

Détails de l'édition

• Éditeur: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
• Date d'édition: 2009
• Langue: anglais
• ISBN 10: 3540747222
• ISBN 13: 9783540747222
• Reliure: Relié
• Nombre de pages: 386
• Éditeur: Hoffmann Georg F, Zschocke Johannes, Nyhan William L.
• Coordonnées du fabricant: non disponible
• Personne responsable: CMN Printpool Inh. Mathis Neumann; https://www.also.com/ec/cms5/en_6000/6000/index.jsp; ; Friedrich-Karl-Str. 9; Hamburg; Allemagne