Inborn metabolic diseases : diagnosis and treatment / Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter, editors.

Format Electronic
EditionSeventh edition.
PublicationBerlin : Springer, [2022]
Copyright Date©2022
Description1 online resource (xxxix, 894 pages) : illustrations (chiefly color)
Supplemental ContentDirect link to eBook
Subjects
Metabolism, Inborn errors of.

Other author/creatorSaudubray, J. M. (Jean-Marie), 1937- editor.
Other author/creatorBaumgartner, Matthias R., editor.
Other author/creatorGarcía-Cazorla, Ángeles, editor.
Other author/creatorWalter, John (John Hugh), editor.
Contents I Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices.
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. Contents 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. Separate, comprehensive sections on IMD 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, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors 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. Ángeles 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. .
Bibliography noteIncludes bibliographical references and index.
Source of descriptionOnline resource; title from PDF title page (SpringerLink, viewed June 29, 2022).
Issued in other formPrint version: Inborn metabolic diseases. Seventh edition. Berlin : Springer, [2022] 9783662631225
ISBN9783662631232 (electronic bk.)
ISBN3662631237 (electronic bk.)
Standard identifier# 10.1007/978-3-662-63123-2