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Updated: May 7, 2026

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北马其顿中链乙基-CoA脱酶缺乏症 - - 十年经验

Violeta Anastasovska1, Mirjana Kocova1, Nikolina Zdraveska2

  • 1Department of Neontal Screening, Faculty of Medicine, University Clinic for Pediatrics, Ss. Cyril and Methodius University in Skopje, Skopje, Republic of North Macedonia.

Journal of pediatric endocrinology & metabolism : JPEM
|March 2, 2025
PubMed
概括

中链乙-CoA脱酶缺乏症 (MCADD) 在北马其顿比以前认为的更为常见. 早期新生儿对MCADD的查可以显著减少受影响婴儿的严重健康结果.

关键词:
在ACADM中发生突变.脂肪酸氧化障碍 脂肪酸氧化障碍中链乙-CoA脱酶缺乏症新生儿查 新生儿查

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