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晚期发作的cblC缺陷:临床,生化和分子分析

Si Ding1, Shiying Ling1, Lili Liang1

  • 1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.

Orphanet journal of rare diseases
|September 28, 2023
PubMed
概括

晚发性cblC缺陷是中国常见的甲基马龙酸血症,呈现出各种症状,导致诊断延迟. 及时识别和治疗对于改善这些患者的治疗结果至关重要.

关键词:
晚期发病 晚期发病甲基马龙酸血症和同胞素尿症神经精神病症状 神经精神病症状预后 预后 预测 预测cblC 的缺陷.

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