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Genotype and phenotypic analysis of AB type GM2 gangliosidosis: 1 case report and literature review
Clinical Research | 更新时间：2024-05-13
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    • Genotype and phenotypic analysis of AB type GM2 gangliosidosis: 1 case report and literature review

    • “科技媒体讯，广西壮族自治区人民医院儿科近期报道了一例4岁起病的AB型GM2-GLS患儿，经Trio全外显子检测明确诊断。研究发现患儿携带GM2A基因的两个复合杂合突变，并检索出相关文献报道20例该型病例。AB型GM2-GLS作为罕见的常染色体隐性遗传性溶酶体贮积症，基因检测有助于明确诊断，为临床诊疗提供了重要参考。”
      ”
    • Medical Journal of Chinese People′s Liberation Army   Vol. 49, Issue 4, Pages: 432-438(2024)

    • DOI：10.11855/j.issn.0577-7402.1324.2023.1228    

      CLC： R748;R745.7

    • Published：28 April 2024，

      Published Online：28 December 2023，

      Received：16 October 2023，

      Accepted：16 December 2023

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  • Tao Mei-Jiao,Huang Ping,Yang Guang.Genotype and phenotypic analysis of AB type GM2 gangliosidosis: 1 case report and literature review[J].Medical Journal of Chinese People′s Liberation Army,2024,49(04):432-438. DOI： 10.11855/j.issn.0577-7402.1324.2023.1228.

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Tao Mei-Jiao
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Department of Pediatrics, Guangxi Zhuang Autonomous Region People's Hospital, Guangxi Academy of Medical Sciences
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