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Books > Medicine > Clinical & internal medicine > Paediatric medicine
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Atlas of Inherited Metabolic Diseases (Hardcover, 4th edition)
Loot Price: R5,495
Discovery Miles 54 950
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Atlas of Inherited Metabolic Diseases (Hardcover, 4th edition)
Expected to ship within 12 - 19 working days
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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 content is divided
into sections of related disorders, including disorders of amino
acid metabolism, lipid storage disorders, and mitochondrial
diseases for ease of reference, with an introductory outline where
appropriate summarizing the biochemical features and general
management issues. Within the sections, each chapter deals with an
individual disease, opening with a useful summary of major
phenotypic expression including clear and helpful biochemical
pathways, identifying for the reader exactly where the defect
occurs. Throughout the book, plentiful photographs, often showing
extremely rare disorders, are an invaluable aid to diagnosis. Key
Features * Fully updated to incorporate all new developments in the
field * Brand new chapters cover methylmalonic aciduria of ACSF3
deficiency, branched chain keto acid dehydrogenase deficiency,
serine deficiencies, purine nucleoside phosphorylase deficiency,
antiquitin deficiency, and others * Excellent and detailed clinical
descriptions, with numerous valuable hints and suggestions for
management * Helpful explanatory algorithms and decision trees, and
high-quality illustrative material including biochemical pathways
and an unrivaled photographic collection, which enhance clinical
applicability The fourth edition of this highly regarded book,
authored by two of the foremost authorities in pediatric metabolic
medicine, continues to provide incomparable insight into the
problems associated with metabolic diseases and remains invaluable
to pediatricians, geneticists, and general clinicians worldwide.
General
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