Inborn Metabolic Diseases - Fernandez; Saudubray; Berghe

Descripción

LIBRERÍA LEA+

The diagnosis and treatment of metabolic diseases reresent the main issues of this clinical book. Each disease-related chapter starts with a figure whichh presents an outline of the metabolic pathway, the position of the figure on the ledt-hand page facilitates its consultation when reading the text further. A short explanation of its major functions. The position of the figure on the left-hand page facilitates its consultation when reading the text further. A short clinical abstract on the title page of the chapter is folwoded by the headings clinical presentation, metabolic derangements, diagnosis (and diagnostic test), treatment and prognosis, genetics (main abnormalities only) and references, in a fixed order. As to treatments, this involves emergency treatment, maintenance treatment and, if applicable, treatment in the adult.

Five Chapters on general principles of diagnosis and treatment precede the chapters on specific disorders. The first is the most important chapter, since it is an introduction to the clinical approach to inborn metabolic disease (see Preface). The orders deal with diagnostic procedures, emergency treatments, psychosocial care, and, last but not least, the present status of tratments with comprehensive lists, as well as new trends of treatment.

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