| 书目名称 | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria | | 编辑 | R. A. Harkness,R. J. Pollitt,G. M. Addison | | 视频video | | | 图书封面 |  | | 描述 | 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the ‘Mini‘ Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments. | | 出版日期 | Book 1990 | | 关键词 | Alanin; Chromosom; Galactose; Glycogen; gene therapy; genes; genetics; homeostasis; metabolism; transplantati | | 版次 | 1 | | doi | https://doi.org/10.1007/978-94-009-2175-7 | | isbn_softcover | 978-0-7923-8947-7 | | isbn_ebook | 978-94-009-2175-7 | | copyright | Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1990 |
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发表于 2025-3-21 17:23:18
