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Inborn metabolic diseases = diagnosi...

Saudubray, Jean-Marie.

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Inborn metabolic diseases = diagnosis and treatment /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Inborn metabolic diseases/ edited by Jean-Marie Saudubray ... [et al.].
Reminder of title:	diagnosis and treatment /
other author:	Saudubray, Jean-Marie.
Published:	Berlin, Heidelberg :Springer Berlin Heidelberg : : 2022.,
Description:	xxxix, 894 p. :ill. (chiefly color), digital ;24 cm.
[NT 15003449]:	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.
Contained By:	Springer Nature eBook
Subject:	Metabolism, Inborn errors of. -
Online resource:	https://doi.org/10.1007/978-3-662-63123-2
ISBN:	9783662631232

Inborn metabolic diseases = diagnosis and treatment /
Inborn metabolic diseasesdiagnosis and treatment /[electronic resource] :edited by Jean-Marie Saudubray ... [et al.]. - Seventh edition. - Berlin, Heidelberg :Springer Berlin Heidelberg :2022. - xxxix, 894 p. :ill. (chiefly color), digital ;24 cm.

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.

ISBN: 9783662631232

Standard No.: 10.1007/978-3-662-63123-2doiSubjects--Topical Terms:

639903
Metabolism, Inborn errors of.

LC Class. No.: RC627.8 / .I53 2022

Dewey Class. No.: 616.39

Inborn metabolic diseases = diagnosis and treatment /
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505 0 $a 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.
520 $a 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.
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