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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.
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.
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.
A clinical and biochemical approach to the diagnosis and management of IEM
Indispensable for professionals in pediatrics, neonatology, pathological biochemistry, genetics, neurology
Written by internationally recognised experts on their subjects
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
| Erscheinungsjahr: | 2023 |
|---|---|
| Fachbereich: | Andere Fachgebiete |
| Genre: | Medizin |
| Rubrik: | Wissenschaften |
| Medium: | Taschenbuch |
| Seiten: | 936 |
| Inhalt: |
xxxix
894 S. 6 s/w Illustr. 96 farbige Illustr. 894 p. 102 illus. 96 illus. in color. |
| ISBN-13: | 9783662631256 |
| ISBN-10: | 3662631253 |
| Sprache: | Englisch |
| Ausstattung / Beilage: | Paperback |
| Einband: | Kartoniert / Broschiert |
| Redaktion: |
Saudubray, Jean-Marie
Walter, John García-Cazorla, Ángeles Baumgartner, Matthias R. |
| Herausgeber: |
Jean-Marie Saudubray/Matthias R Baumgartner/Ángeles García-Cazorla et
al |
| Auflage: | 7th ed. 2022 |
| Hersteller: |
Springer-Verlag GmbH
Springer Berlin Heidelberg |
| Maße: | 279 x 210 x 50 mm |
| Von/Mit: | Jean-Marie Saudubray (u. a.) |
| Erscheinungsdatum: | 08.08.2023 |
| Gewicht: | 2,23 kg |
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.
A clinical and biochemical approach to the diagnosis and management of IEM
Indispensable for professionals in pediatrics, neonatology, pathological biochemistry, genetics, neurology
Written by internationally recognised experts on their subjects
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
| Erscheinungsjahr: | 2023 |
|---|---|
| Fachbereich: | Andere Fachgebiete |
| Genre: | Medizin |
| Rubrik: | Wissenschaften |
| Medium: | Taschenbuch |
| Seiten: | 936 |
| Inhalt: |
xxxix
894 S. 6 s/w Illustr. 96 farbige Illustr. 894 p. 102 illus. 96 illus. in color. |
| ISBN-13: | 9783662631256 |
| ISBN-10: | 3662631253 |
| Sprache: | Englisch |
| Ausstattung / Beilage: | Paperback |
| Einband: | Kartoniert / Broschiert |
| Redaktion: |
Saudubray, Jean-Marie
Walter, John García-Cazorla, Ángeles Baumgartner, Matthias R. |
| Herausgeber: |
Jean-Marie Saudubray/Matthias R Baumgartner/Ángeles García-Cazorla et
al |
| Auflage: | 7th ed. 2022 |
| Hersteller: |
Springer-Verlag GmbH
Springer Berlin Heidelberg |
| Maße: | 279 x 210 x 50 mm |
| Von/Mit: | Jean-Marie Saudubray (u. a.) |
| Erscheinungsdatum: | 08.08.2023 |
| Gewicht: | 2,23 kg |
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