Inborn Metabolic Diseases: Diagnosis and Treatment - Couverture souple

Couverture souple

ISBN 10 : 3662631253 ISBN 13 : 9783662631256

Editeur : Springer-Verlag Berlin and Heidelberg GmbH & Co. K, 2023

Synopsis

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.

A propos du livre

À propos de l'auteur

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.

Détails de l'édition

• Éditeur: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
• Date d'édition: 2023
• Langue: anglais
• ISBN 10: 3662631253
• ISBN 13: 9783662631256
• Reliure: Broché
• Nombre de pages: 933
• Éditeur: Saudubray Jean-Marie, Baumgartner Matthias R., García-Cazorla Ángeles, Walter John
• Coordonnées du fabricant: Springer Nature Customer Service Center GmbH; ProductSafety@springernature.com; ; Europaplatz 3; Heidelberg; 69115; Allemagne