| 书目名称 | Inborn Metabolic Diseases |
| 副标题 | Diagnosis and Treatm |
| 编辑 | Jean-Marie Saudubray,Matthias R. Baumgartner,John |
| 视频video | |
| 概述 | Essential resource in the interdisciplinary field of inborn metabolic diseases.Indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genet |
| 图书封面 |  |
| 描述 | .This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6.th. edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. ..Contents: .A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. . |
| 出版日期 | Book 20166th edition |
| 关键词 | Disorders of metabolism; Inborn errors of metabolism; Inherited metabolic diseases; Metabolic diseases; |
| 版次 | 6 |
| doi | https://doi.org/10.1007/978-3-662-49771-5 |
| isbn_ebook | 978-3-662-49771-5 |
| copyright | Springer-Verlag GmbH Germany 2016 |
发表于 2025-3-21 17:51:33
