Atlas Of Inherited Metabolic Diseases
by William L. Nyhan /
2012 / English / PDF
22.4 MB Download
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 biochemicalpathways, 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. The ebook edition is in VitalBookTM Bookshelf - an ebook reader which allows you to: * download the ebook to your computer, access it anywhere with an internet browser or download free apps to read on your iPhone or iPad. * search the full text of all of the ebooks that you hold on your bookshelf for instant access to the information you need * link through from references to PubMed * make and share notes and highlights on your ebooks * copy and paste text and figures for use in your own documents and presentations * customize your view by changing font size and layout.
