Atlas of Metabolic Diseases (2nd Edition)


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 second 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. For ease of reference, 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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