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  • Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
    使用环状吡喃假尿单磷酸治疗的钼辅因子A型缺乏症患者的生存率提高

    Guenter Schwarz,Donald G Basel,Bernd C Schwahn et al.

    Journal of inherited metabolic disease. 2025 Mar;48(2):e70000. DOI:10.1002/jimd.70000
  • Correction to "Clinical Outcomes in Patients Switching From Agalsidase Beta to Migalastat: A Fabry Registry Analysis"
    对“从贝塔-阿加利酸酶转换到米拉司太的患者临床结果：法布里病登记分析”一文的更正

    Journal of inherited metabolic disease. 2025 Mar;48(2):e70023. DOI:10.1002/jimd.70023
  • Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up
    从未治疗过非脾切除Gaucher病患者（法国GANT研究）的前瞻性随访研究

    Alberto Nasce,Yann Nguyen,Nadia Belmatoug et al.

    Journal of inherited metabolic disease. 2025 Mar;48(2):e70026. DOI:10.1002/jimd.70026
  • Correction to "Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies"
    对“基因组新生儿筛查研究中基因和疾病选择的比较分析”的勘误

    Journal of inherited metabolic disease. 2025 Mar;48(2):e70022. DOI:10.1002/jimd.70022
  • Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
    甘油磷脂：在细胞运输中的作用及相关的先天性错误

    Foudil Lamari,Francis Rossignol,Grant A Mitchell

    Journal of inherited metabolic disease. 2025 Mar;48(2):e70019. DOI:10.1002/jimd.70019
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