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Updated: Jun 28, 2025

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进一步描述与ARSK相关的第10类粘多糖症

Dilek Uludağ Alkaya1, Hasan Emir Taner1, Timur Yıldırım2

  • 1Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.

American journal of medical genetics. Part A
|April 18, 2024
PubMed
概括

这项研究详细介绍了与ARSK相关的10型粘多糖症 (MPS 10),确定了新型变体和长期患者的结果. 关键发现包括MPS 10患者的长骨中甲基细胞条纹和渐进的关节发育不良.

关键词:
阿尔斯克 (ARSK) 是一个粘多糖糖症是什么 粘多糖症是什么多发性形形症多发性形症多发性形症脊椎形性形症是指脊椎形性形症.

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