Editors:
A unique source of reference information for both laboratory and clinical practice
Highlights clinical findings, age-related pathological values for diagnostic metabolites, and the role of biochemical genetic testing
Offers step-by-step algorithms for diagnosis
Outlines established and experimental therapies
Complements other major texts in the field
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Table of contents (55 chapters)
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Front Matter
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Organic Acids
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Front Matter
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Vitamins, Cofactors, and Metals
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Front Matter
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About this book
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.
Reviews
From the book reviews:
“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)Editors and Affiliations
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Department of General Pediatrics, University Children's Hospital, Division of Inborn Metabolic Diseases, Heidelberg, Germany
Nenad Blau
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Laboratory Genetic Metabolic Diseases, University of Amsterdam Academic Medical Centre, Amsterdam, The Netherlands
Marinus Duran
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Section of Clinical Pharmacology, Washington State University, Spokane, USA
K Michael Gibson
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Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children’s Research Hospital, Rome, Italy
Carlo Dionisi Vici
Bibliographic Information
Book Title: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Editors: Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici
DOI: https://doi.org/10.1007/978-3-642-40337-8
Publisher: Springer Berlin, Heidelberg
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2014
Softcover ISBN: 978-3-662-50688-2Published: 23 August 2016
eBook ISBN: 978-3-642-40337-8Published: 08 July 2014
Edition Number: 1
Number of Pages: XLV, 867
Number of Illustrations: 81 b/w illustrations, 82 illustrations in colour
Topics: Metabolic Diseases, Medical Biochemistry, Pediatrics, Laboratory Medicine, Human Genetics