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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.)

  • 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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Buy this book

eBook $179.00
price for USA (gross)
  • ISBN 978-3-642-40337-8
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $229.00
price for USA
  • ISBN 978-3-642-40336-1
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
Softcover $229.00
price for USA
  • ISBN 978-3-662-50688-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Rent the eBook  
  • Rental duration: 1 or 6 month
  • low-cost access
  • online reader with highlighting and note-making option
  • can be used across all devices
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)

Table of contents (55 chapters)

  • Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

    Blau, Nenad (et al.)

    Pages 3-21

  • Tyrosine Metabolism

    Holme, Elisabeth (et al.)

    Pages 23-31

  • Sulphur Amino Acids

    Barić, Ivo (et al.)

    Pages 33-46

  • Hyperammonemias and Related Disorders

    Häberle, Johannes (et al.)

    Pages 47-62

  • Disorders of Glycine, Serine, GABA, and Proline Metabolism

    Hove, Johan L. K. (et al.)

    Pages 63-83

Buy this book

eBook $179.00
price for USA (gross)
  • ISBN 978-3-642-40337-8
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $229.00
price for USA
  • ISBN 978-3-642-40336-1
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
Softcover $229.00
price for USA
  • ISBN 978-3-662-50688-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Rent the eBook  
  • Rental duration: 1 or 6 month
  • low-cost access
  • online reader with highlighting and note-making option
  • can be used across all devices
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Bibliographic Information

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
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 and Tables
81 b/w illustrations, 82 illustrations in colour
Topics