Publication Year: 2011
Authors/Editor: Nyhna, William L.; Barshop, Bruce A.; Ozand, Pinar T.
Publisher: CRC Press
The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfills this need by providing an invaluable insight into the problems associated with metabolic diseases.
The book 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.