Online-Ressource
Titel:	Inborn Metabolic Diseases
Titelzusatz:	Diagnosis and Treatment
Mitwirkende:	Saudubray, Jean-Marie [HerausgeberIn]
	Baumgartner, Matthias R. [HerausgeberIn]
	García-Cazorla, Ángeles [HerausgeberIn]
	Walter, John [HerausgeberIn]
Verf.angabe:	edited by Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter
Ausgabe:	7th ed. 2022.
Verlagsort:	Berlin, Heidelberg
	Berlin, Heidelberg
Verlag:	Springer Berlin Heidelberg
	Imprint: Springer
E-Jahr:	2022
Jahr:	2022.
	2022.
Umfang:	1 Online-Ressource(XXXIX, 894 p. 102 illus., 96 illus. in color.)
Gesamttitel/Reihe:	Springer eBook Collection
ISBN:	978-3-662-63123-2
Abstract:	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.
	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. 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. .
DOI:	doi:10.1007/978-3-662-63123-2
URL:	Resolving-System: https://doi.org/10.1007/978-3-662-63123-2
	DOI: https://doi.org/10.1007/978-3-662-63123-2
Schlagwörter:	(s)Stoffwechselkrankheit    / (s)Angeborene Krankheit
Datenträger:	Online-Ressource
Dokumenttyp:	Aufsatzsammlung
Sprache:	eng
Bibliogr. Hinweis:	Erscheint auch als : Druck-Ausgabe: Inborn metabolic diseases. - Seventh edition. - Berlin : Springer, 2022. - XXXIX, 894 Seiten
	Erscheint auch als : Druck-Ausgabe
	Erscheint auch als : Druck-Ausgabe
RVK-Notation:	YC 6221
K10plus-PPN:	1808036468
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