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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician's Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

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"It is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. ... much of the information is presented in tables which gives a good overview and makes the information easily readable. ... the book supplies clinicians and clinical biochemists with data that should facilitate the diagnosis and treatment of patients with inherited metabolic diseases." (Christian Staufner and Verena Peters, Journal of Inherited Metabolic Disease, Vol. 37, 2014)
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Einband gebundene Ausgabe
Herausgeber Carlo Dionisi-Vici, K. Michael Gibson, Marinus Duran, Nenad Blau, Beat Thöny
Seitenzahl 867
Erscheinungsdatum 27.03.2014
Sprache Englisch
ISBN 978-3-642-40336-1
Verlag Springer
Maße (L/B/H) 284/193/48 mm
Gewicht 2728
Abbildungen 81 schwarzweisse Abbilmit 82 FarbabbildungenFarbabb.
Auflage 2014
Buch (gebundene Ausgabe, Englisch)
181,99
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