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A Clinical Guide to Inherited Metabolic Diseases
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  • 60 b/w illus.
  • Page extent: 360 pages
  • Size: 247 x 174 mm
  • Weight: 0.57 kg
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 (ISBN-13: 9780521614993 | ISBN-10: 0521614996)

DOI: 10.2277/0521614996

Manufactured on demand: supplied direct from the printer

 (Stock level updated: 02:45 GMT, 25 November 2015)


This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

• Organized clinically, rather than biochemically • Well-written and well-balanced in terms of content • Easy for the non-expert to read and understand


Preface to third edition; 1. General principles; 2. Neurologic syndrome; 3. Metabolic acidosis; 4. Hepatic syndrome; 5. Cardiac syndromes; 6. Storage syndromes and dysmorphism; 7. Acute metabolic illness in the newborn; 8. New born screening; 9. Laboratory investigation; 10. Treatment; Index.


'… should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics

'In short, this is an excellent guide to metabolic disease; it represents good value for money and, I suspect, will be more likely found in the owner's pocket rather than on the shelf. It is recommended not only to the 'busy physician' and trainee, but to all those with an interest in metabolic disease.' Journal of Inherited Metabolic Disease

'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

'… 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

'Dr Clarke's enthusiasm and erudition are evident on every page of this book.' Archives of Diseases of Childhood

'An excellent book for physicians who find inherited metabolic diseases intimidating …The information is presented in such a clear and simple fashion that few people would find this book difficult to read …Clarke teaches a complex subject in a simple but complete manner.' 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 clearly for you.' Journal of the Royal Society of Medicine

'This books strength lies in its simple straightforward clinical approach to this difficult area of medicine.'

To guide the reader in this assessment, a compact volume such as has been written by Dr Clarke is invaluable. Dr Clarke has succeeded in providing the reader with a user-friendly, inexpensive book that is up to date, and provides directions for further reading.' European Journal of Paediatric Neurology

'Joe T. R. Clarke, is an experienced clinician and educator, and this is evident in the amount of detail and clear explanation provided throughout the work. … it is very readable and would be a valuable addition to the library of anyone involved in genetic counselling, nurses who care for patients with inherited metabolic disease and those involved in newborn screening.' Nursing Standard

'… excellent and very readable book … The concise but comprehensive nature of this book makes it a must have on the book shelf for those working in clinical biochemistry. Of all the books on metabolic diseases on my desk this is the one that is always missing!' Human Genetics

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