Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Editors: Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C. (Eds.)
Free Preview- 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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- About this book
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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
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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)
- Table of contents (55 chapters)
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Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Pages 3-21
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Tyrosine Metabolism
Pages 23-31
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Sulphur Amino Acids
Pages 33-46
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Hyperammonemias and Related Disorders
Pages 47-62
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Disorders of Glycine, Serine, GABA, and Proline Metabolism
Pages 63-83
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Table of contents (55 chapters)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
- Editors
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- Nenad Blau
- Marinus Duran
- K Michael Gibson
- Carlo Dionisi-Vici
- Copyright
- 2014
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-642-40337-8
- DOI
- 10.1007/978-3-642-40337-8
- Hardcover ISBN
- 978-3-642-40336-1
- Softcover ISBN
- 978-3-662-50688-2
- Edition Number
- 1
- Number of Pages
- XLV, 867
- Number of Illustrations
- 81 b/w illustrations, 82 illustrations in colour
- Topics
