Shulph Ink
Inborn Metabolic Diseases: Diagnosis and Treatment
Inborn Metabolic Diseases: Diagnosis and Treatment
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The 7th edition of Inborn Metabolic Diseases is a significant milestone in the field, reflecting a Copernican revolution in our understanding of IMD. It covers a wide range of disorders, including energy metabolism, small molecule disorders, complex molecules disorders, and nucleic acid metabolism, with two new chapters added. It provides a clinical and biochemical approach to diagnosis and management, with diagnostic algorithms for patients of all ages and a focus on neurological presentations.
Format: Paperback / softback
Length: 894 pages
Publication date: 08 August 2023
Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
The 7th edition of Inborn Metabolic Diseases (IMD) is a significant milestone in the field, recognized as the authoritative textbook for professionals involved in the diagnosis and management of IMD. In the past 5 years, there has been a remarkable Copernican revolution in our understanding of IMD, leading to a redefinition of its definition, concepts, paradigms, and classification. This new edition expands the concept of IMD to encompass disorders of molecular machinery that are diagnosed through molecular techniques but currently lack measurable metabolic markers. The book offers a comprehensive clinical and biochemical approach to the diagnosis and management of IEM, with numerous diagnostic algorithms tailored for patients of all ages, particularly those with neurological presentations. It includes dedicated sections on IEM classified into three major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, primarily diagnosed using metabolic markers; and complex molecule disorders, primarily diagnosed through molecular techniques. Additionally, two new chapters have been added, covering approximately 600 disorders related to nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
Weight: 2244g
Dimension: 212 x 286 x 53 (mm)
ISBN-13: 9783662631256
Edition number: 7th ed. 2022
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