苯丙酮尿症的临床实践指南 |
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(1)PAH突变分析联盟数据库(PAH Mutation Analysis Consortium Database;由26个国家的81名研究人员提供): http://www.pahdb.mcgill.ca (2)National PKU Alliance: http://npkua.org/ (3)Children’s PKU Network: http://www.pkunetwork.org/ (4)Genetics Home Reference: Phenylketonuria: http://ghr.nlm.nih.gov/condition/phenylketonuria (5)MayoClinic.com: Phenylketonuria: http://www.mayoclinic.com/health/phenylketonuria/DS00514 (6)Medical Home Portal: Phenylketonuria (PKU) and Pterin defects: http://www.medicalhomeportal.org/diagnoses-and-conditions/phenylketonuria-and-pterin-defects/description (7)GeneReviews中文版: https://genereviews.nrdrs.org.cn/paper/paper?code=734fbc0bfaf4478d3576ee61e2e8e1d4 (8)Mitchell JJ, Scriver CR. (Updated 4 May 2010). Phenylalanine Hydroxylase Deficiency. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK1504/. Accessed [01/18/2013]. (9)National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management. October 16-18, 2000. Pediatrics, 2001, 108(4): 972-982. (10)van Sprongsen FJ. "Phenylketonuria: a 21st century perspective." Nature Reviews Endocrinology, 2010, 6(9): 509-514. 参与本指南撰写的专家名单:黄尚志(北京协和医学院、世界卫生组织遗传病社区控制合作中心);宋昉(首都儿科研究所遗传研究室) 参与本指南审定的专家名单:徐湘民(南方医科大学基础医学院医学遗传学教研室);沈明(中日友好医院儿科) |
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