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Inborn Metabolic Diseases: Diagnosis and Treatment

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Inborn Metabolic Diseases: Diagnosis and Treatment has for many years been considered a classic textbook, indispensable to those involved in the care of patients with inborn errors of metabolism, including paediatricians, clinical biochemists, neurologists, specialists in internal medicine, geneticists, dietitians, nurses and clinical psychologists. The 4th edition was published five years ago and sadly, since then, in 2009, John Fernandes, the early spiritual father, of the book, has died.

This new 5th edition has been extensively revised, but remains focused on the clinical symptoms and signs at presentation, the investigations necessary to reach a correct diagnosis and the management of specific disorders. We have also borne in mind the need to keep the book to a reasonable size. Two new chapters have been added; the first on the diagnostic approach to neurometabolic disorders in adulthood and the second on disorders of phospholipid and sphingolipid synthesis. All chapters from the 4th edition have been carefully updated, and some considerably extended; for example, the chapter on the transport of metals now includes iron, manganese and selenium transport disorders in addition to those of copper, zinc and magnesium. Chapter 1 has also been extended and now includes many genetic disorders affecting transporters, channels and enzymes implicated in the logistics and regulation of the cells, disorders which exemplify the bridge between classic metabolic diseases and those caused by structural proteins mutations.
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