A Clinical Guide to Inherited Metabolic Diseases
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Book 1
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A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases


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About the Book

This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one goes from here to establish a diagnosis. The well-illustrated text is organised around the clinical presentation of the disease, to facilitate rapid diagnosis, and then clearly explains how to go about identifying the underlying biochemical and genetic lesion. It will therefore complement those more traditional textbooks of metabolic disease which are organised biochemically, but which are of less practical use in the doctor's clinic or surgery. The book is intended to serve as an entrance to the discipline, to help nonexpert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems.

Table of Contents:
Preface; 1. General principles; 2. Neurologic syndrome; 3. Hyperphenylalaninemia and screening for PKU; 4. Metabolic acidosis; 5. Hepatic syndrome; 6. Cardiac syndromes; 7. Storage syndrome and dysmorphism; 8. Acute metabolic illness in the newborn; 9. Laboratory investigation; 10. Treatment; Index.

Review :
'The book lends itself to easy access for the generalist … The writing is lucid, direct and salted with personal observations. Clarke's teaching skills shine forth from each page … a bridge between general pediatric texts and comprehensive but less accessible volumes … effectively demystifying the anxiety-provoking world of inherited biochemical illnesses.' Alex MacKenzie, Canadian Medical Association Journal '… refreshing to find this user-friendly clinical guide which should suit most pockets both in size and cost … The author draws very much on his own extensive experience to produce a succinct and readable text … an excellent guide to metabolic disease … good value for money'. G. T. N. Besley Journal of Inherited Metabolic Disease 'J. T. R. Clarke has performed the amazing feat of distilling practical knowledge about the diagnosis of metabolic diseases into a small, yet ultimately pragmatic, 280-page clinical guide … I found this to be an amazing book, with contains a vast amount of information presented in a concise, logical, and well-organized fashion … I would recommend this book wholeheartedly to anyone involved in the diagnosis of inherited metabolic diseases.' Kathleen Fergus, Journal of Genetic Counseling 'If you can peruse this paperback at your local medical bookshop, do so; you may find it an answer to prayer, and anyway, at just under £30 it won't bankrupt anyone.' www.archdischild.com 'This is a well-written and concise introduction to unborn errors of metabolism with an attractive print on bright paper. The book provides a welcome mix of clinical data and the necessary but not overwhelming underlying biochemical basis … this book is a 'must read' for the trainee in pediatric pathology and for pediatric pathologists wishing to consolidate their information on inherited metabolic diseases.' Pediatric and Developmental Pathology


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Product Details
  • ISBN-13: 9780521480642
  • Publisher: Cambridge University Press
  • Publisher Imprint: Cambridge University Press
  • Height: 235 mm
  • No of Pages: 300
  • Returnable: N
  • Returnable: N
  • Weight: 619 gr
  • ISBN-10: 0521480647
  • Publisher Date: 13 Sep 1996
  • Binding: Hardback
  • Language: English
  • Returnable: N
  • Returnable: N
  • Spine Width: 19 mm
  • Width: 157 mm


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