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Inborn Metabolic Diseases - Diagnosis and Treatment (Hardcover, 7th ed. 2022)
Loot Price: R6,856
Discovery Miles 68 560
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Inborn Metabolic Diseases - Diagnosis and Treatment (Hardcover, 7th ed. 2022)
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This 7th edition is a milestone in the series of Inborn Metabolic
Diseases (IMD), recognised as the standard textbook for
professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our
understanding of IMD has changed the definition, concepts,
paradigms, and classification. This new edition now extends the
concept of IMD to include those disturbances in molecular machinery
diagnosed by molecular techniques but currently without measurable
metabolic markers. The book presents a clinical and biochemical
approach to the diagnosis and management of IEM with many
diagnostic algorithms for patients of all ages and with a
particular focus on neurological presentations. It includes
separate, comprehensive sections on IEM classified in 3 major
pathophysiological categories: disorders of energy metabolism, both
mitochondrial and non-mitochondrial; small molecule disorders,
mostly diagnosed with metabolic markers; and complex molecules
disorders, mostly diagnosed with molecular techniques. Two new
chapters were added, describing around 600 disorders of nucleic
acid metabolism, tRNA metabolism, ribosomal biogenesis, and
cellular trafficking.
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