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Medicine > Genetics
Atlas of Inherited Metabolic Diseases 3E
Nyhan, William L
ISBN 13: 
9781444112252
ISBN 10: 
1444112252
Category: 
Genetics
Edition: 
3
Publisher: 
Taylor & Francis
Format: 
PACKAGE
Status: 
Active
Imprint: 
CRC Press
Affiliation: 
MD PhD Professor of Pediatrics, Biochemical Genetics Program, University of California, San Diego, USA
Audience: 
Professional and scholarly
Dimensions: 
10.86 x 1.7 x 8.25 in
Pages: 
888
Weight: 
6.02
Retail Price: 
245.00
Quantity On Hand: 
0
Quantity On Order: 
0
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Synopsis:
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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