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Inborn Metabolic Diseases: Diagnosis and Treatment

Inborn Metabolic Diseases: Diagnosis and Treatment  



  • John Fernandes
  • Jean-Marie Saudubray
  • Georges van den Berghe
  • John H. Walter 


  • Hardcover: 561 pages
  • Publisher: Springer; 4 edition (October 19, 2006)
  • Language: English
  • ISBN-10: 3540287833
  • ISBN-13: 978-3540287834
  • Product Dimensions: 10.7 x 7.8 x 0.9 inches
  • Shipping Weight: 3.04 pounds


Book Description

This henceforth classical textbook has become indispensable for those in the front line dealing with metabolic disorders. As with previous editions the book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers.

This 4th edition has been thoroughly updated and revised and John Walter has joined the three other editors. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included; for example defects involving the pentose phosphate pathway (polyols metabolism) and disorders of glucose transport. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables and has been entirely revised and extended to include adult metabolic medicine. It now incorporates many new findings particularly in neuroradiology and neurophysiology and emphasises those disorders for which treatment is available. This accessible and practical book can be used either by going directly to the relevant chapter when the diagnosis is already suspected or by referring to Chapter 1 if it is unknown.

Despite the numerous updates the book has been maintained at a reasonable size and is published as a single volume of approximately 550 pages divided into 43 Chapters.

Covers clinical issues as to the diagnosis and treatment of metabolic diseases. Each chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and its major functions. Also discusses psychosocial care and the present status of treatments with comprehensive lists, and new trends. Previous edition: c1995. –This text refers to the Hardcover edition.  


the most usefull guide to inherited metabolic disease, June 28, 2001

I’m now into the vast subject of inherited metabolic diseases for about one and a half year. This book is the perfect guide in dayly clinical work. It gives a short introduction at the first page of every chapter, showing the metabolic pathway and giving a short summery of the different types of metabolic defects in this part of metabolism. It’s not only brief but also based on the recent publications. The very systematic structure and the much better index of this new edition is another reason why there is no day without Fernandez et al. in my clinical work.

 Book Info