Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.
作者信息
Bhambhani Vikas, Introne Wendy J, Lungu Codrin, Cullinane Andrew, Toro Camilo
机构信息
Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
出版信息
Mov Disord. 2013 Feb;28(2):127-9. doi: 10.1002/mds.25386.
Abstract
摘要
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Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.切-东综合征中的细胞缺陷与分子基因型和临床表型相关。
J Invest Dermatol. 2007 Nov;127(11):2674-7. doi: 10.1038/sj.jid.5700899. Epub 2007 May 31.
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Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.异基因骨髓移植治疗切-东综合征20年后的进行性神经功能障碍
Blood. 2005 Jul 1;106(1):40-2. doi: 10.1182/blood-2005-01-0319. Epub 2005 Mar 24.
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