상세정보
- 상세정보
Inborn Metabolic Diseases Diagnosis and Treatment [electronic resource]
Saudubray, Jean-Marie
- 책이미지
-
- 도서 상세정보
- 서평쓰기
| 자료유형 | 단행본 |
|---|---|
| 개인저자 | Saudubray, Jean-Marie.,editor. Baumgartner, Matthias R.,editor. García-Cazorla, Ángeles.,editor. Walter, John.,editor. |
| 단체저자명 | SpringerLink (Online service). |
| 서명/저자사항 | Inborn Metabolic Diseases [electronic resource] : Diagnosis and Treatment / edited by Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter. |
| 판사항 | 7th ed. 2022. |
| 형태사항 | XXXIX, 894 p. 102 illus., 96 illus. in color:online resource. |
| 기본자료 저록 | Springer Nature eBook |
| 기타형태 저록 | Printed edition:9783662631225Printed edition:9783662631249Printed edition:9783662631256 |
| ISBN | 9783662631232 |
| 기타표준부호 | 10.1007/978-3-662-63123-2 |
| 내용주기 | 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. |
| 요약 | 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. . |
| 일반주제명 | Pediatrics. Medical genetics. Internal medicine. Neurology . Pediatrics. Medical Genetics. Internal Medicine. Neurology. |
| 바로가기 | URL |