| 书目名称 | Diagnosis of human peroxisomal disorders | | 副标题 | A handbook | | 编辑 | Frank Roels (Professor of Human Anatomy and Embryo | | 视频video | | | 图书封面 |  | | 描述 | Peroxisomal disorders constitute a major research front inclinical genetics, paediatrics and cell biology. Since 1983, themetabolic defect in some 20 different peroxisomal disorders has beendescribed. The best known conditions include Zellweger syndrome,rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophyand, in the most recent edition of .The Metabolic and MolecularBasis Inherited. .Disease., edited by Scriver and colleagues,more than 100 pages are now devoted to the subject. .Progress in our understanding of these conditions, and theirdiagnosis, results from the application of a variety of laboratoryinvestigations. These include microscopic studies, analysis ofmetabolites (very long-chain fatty acids, bile acids, andplasmalogens), enzyme studies (peroxisomal beta-oxidation pathway anddihydroxyacetone phosphate acyltransferase), immunodetection ofperoxisomal (membrane) proteins and molecular analysis of mutant DNA..In order to encourage a greater awareness in this field and thediagnostic protocols required, an international course was organisedin Gent, Belgium, in May 1994, on the clinical and biochemicaldiagnosis of peroxisomal disorders. A number of internation | | 出版日期 | Book 1995 | | 关键词 | biology; blood; brain; cell; cell biology; cells; diagnosis; fat; genetics; pathology; plasma; prevention; prote | | 版次 | 1 | | doi | https://doi.org/10.1007/978-94-011-9635-2 | | isbn_softcover | 978-0-7923-3855-0 | | isbn_ebook | 978-94-011-9635-2 | | copyright | Springer Science+Business Media Dordrecht 1995 |
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发表于 2025-3-21 19:26:50
