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Inborn Metabolic Diseases: Diagnosis and Treatment

Saudubray, Jean-Marie

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Book Information
Edition:	7th
Publisher:	Springer Nature
ISBN:	3-662-63122-9 (3662631229)
ISBN-13:	978-3-662-63122-5 (9783662631225)
Old Edition:	3-662-49769-7
Binding:	Hardcover
Copyright:	2022
Publish Date:	11/22
Weight:	5.13 Lbs.
Pages:	894
Subject Class:	GEN (Genetics)
Return Policy:	Returns accepted up to 12 months provided no other recalls or return restrictions apply.
Contributing Authors:	View
ProQuest Ebook Central:	Available in ProQuest Ebook Central™ View

Class Specifications
Discipline:	Metabolic Dis
Subject Definition:	Metabolism, Inborn Errors-Diagnosis
NLM Class:	WD 205
LC Class:	RC267.8
Abstract:	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. Chassin...s Operative Strategy in General Surgery: An Expositive Atlas Fifth Edition comprehensively covers all non-vascular operations commonly performed by general surgeons. This edition expands this comprehensive general surgery reference while remaining true to the special character of the work. The revision expands upon procedures not covered in the previous edition and incorporates new techniques into many other chapters.

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