Inborn Metabolic Diseases
Language: English
Published by Springer Gabler Aug 2023, 2023
- Softcover
- New
Seller: Books-by-Floh, Paderborn, GermanyBooks-by-Floh
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Condition: New
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Add to basketItem description from seller
Neuware -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. 936 pp. Englisch.…
Seller Inventory # 9783662631256
- Title
- Inborn Metabolic Diseases
- Author
- Matthias R. Baumgartner
- Publisher
- Springer Gabler Aug 2023
- Publication year
- 2023
- Condition
- Neu
- Binding
- Taschenbuch
- Language
- English
- ISBN 10
- 3662631253
- ISBN 13
- 9783662631256
- Item weight
- 2,230 grams
- Dimensions
- 279x210x50 mm
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.
"Synopsis" may belong to another edition of this title.
About the Author
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
"About the title" may belong to another edition of this title.
Books-by-Floh
Paderborn, Germany
AbeBooks seller since March 13, 2026
Shipping rates from Germany to U.S.A.
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Books-by-Floh steht für ein breites, kuratiertes Buchsortiment aus einer Hand. Unser Fokus liegt auf Qualität, Vielfalt und zuverlässiger Abwicklung.
Wir führen Romane, Krimis, Thriller, Liebesromane, Lyrik, Anthologien, Mythologie, Fachbücher sowie Werke der Gegenwartsliteratur – für Leserinnen und Leser mit Anspruch.
Alle Artikel werden ausschließlich aus Deutschland versendet. Das garantiert kurze Lieferzeiten, transparente Prozesse und einen verlässlichen Service.
Unser Anspruch: unkomplizierter Einkauf, Bücher, die man gerne liest – heute und morgen.
Books-by-Floh – Bücher. Klar. Verlässlich.
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