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In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases.
The Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
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William L Nyhan MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Bruce A Barshop MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA;
Aida I Al-Aqeel MD, DCH, FRCP, FACMG, Consultant and Head Pediatrics, Medical Genetics and Consultant Endocrinology, Riyadh Military Hospital, Riyadh, Saudi Arabia
This is a book which should be on all paediatric wards, neonatal units, and out-patient departments....
.... it is an excellent resource for reference; a book to be leafed through when faced with a diagnostic dilemma. And once a diagnosis has been made, this book provides excellent management and treatment plans as guidance for dealing with often complicated and rare diseases.
"I have not seen a better introduction and a more palatable and readable guide than this beautiful and well-written book ... beautifully illustrated ... and nicely reproduced neuroimaging studies ... I have no hesitation in recommending it."
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