A Clinical Guide to Inherited Metabolic Diseases
A Clinical Guide to Inherited Metabolic Diseases
$67.99
USDThis clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis. It is a well-illustrated text that is organized around the clinical presentation of the disease. Biochemical and metabolic concepts are presented in a clinically relevant context. It functions to complement more traditional textbooks which are organized biochemically. The book serves as an entrance to the discipline, to help non-expert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems. This new edition has been expanded to include substantially more on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis.
- New edition substantially updated and expanded with more on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis
- Many more illustrations showing clinically relevant examples
- User-friendly organization based on symptoms and clinical signs rather than biochemistry
Reviews & endorsements
Review of the first edition '… should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics
'The writing is lucid, direct and salted with personal observations. Clarke's teaching skills shine forth from each page … It succeeds admirably, effectively demystifying the anxiety-provoking world of inherited biochemical illness.' Canadian Medical Association Journal
'If your clinical work brings you into contact with patients who may be hiding an inherited metabolic disease, Clarke's guide is for you. Clearly it will be of greatest help to paediatricians.' Journal of the Royal Society of Medicine
'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. … On the whole, I found this to be an amazing book which 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.' Journal of Genetic Counseling
'This book's strength lies in its simple straightforward clinical approach to this difficult area of medicine.' Doctors.net.uk
'To guide the physician in this assessment, a compact volume such as has been written by Dr Clark is invaluable. Dr Clark has succeeded in providing the reader with a user-friendly, inexpensive book that is up-to-date, and provides directions for further reading … this is a good practical and instructive book, and I hope that it will find its way into the hands of a large number of paediatricians and paediatric neurologists. European Journal of Paediatric Neurology
'An excellent book for physicians who find inherited metabolic disorders intimidating, this book is also an excellent source for those who already care for patients with these disorders and would like to solidify their understanding of basic principles.' Practice
'Dr Clark's enthusiasm and erudition are evident on every page of this book, which is handily sized and, wonder of wonders, costs only £30.' www.archdischild.com
'… this is a good practical and instructive book, and I hope that it will find its way into the hands of a large number of paediatricians and paediatric neurologists.' European Journal of Paediatric Neurology
'The book is well written and contains a wealth of experience organised in a practical way … I feel the book fulfils its aim as 'a clinical guide' and provides a coherent framework for those who wish to learn more about metabolic disease.' Neuromuscular Disorders
Product details
January 2005Adobe eBook Reader
9780511039324
0 pages
0kg
65 b/w illus. 72 tables
This ISBN is for an eBook version which is distributed on our behalf by a third party.
Table of Contents
- Preface
- Foreword Charles Scriver
- 1. General principles
- 2. Neurologic syndrome
- 3. Metabolic acidosis
- 4. Hepatic syndrome
- 5. Cardiac syndromes
- 6. Storage syndrome and dysmorphism
- 7. Acute metabolic illness in the newborn
- 8. Newborn screening
- 9. Laboratory investigation
- 10. Treatment
- Index.
