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Updated: Jan 8, 2026

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五种已知的多氨基蛋白病的遗传和表型特征:一个批判性的叙事审查

Elizabeth A VanSickle1,2,3, Sara M Sarasua1, Tracy Lowe1

  • 1School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.

American journal of medical genetics. Part A
|December 18, 2025
PubMed
概括

多氨基蛋白病是一种罕见的遗传性疾病,影响着聚胺生物合成. 本综述详细介绍了五种综合征,包括斯奈德-罗宾逊综合征,突出了共同和独特的临床特征,以便更好地诊断.

关键词:
巴赫曼布普综合征 (BachmannBupp综合征) 是一种在 DHPS 系统中使用 DHPS.这就是为什么DOHH DOHH.欧洲投资基金5A法恩德斯 - 班卡综合征一个ODC1一个ODC1在SMS中,SMS是SMS.斯奈德罗宾逊综合征是什么意思脱氧基氨酸氧酶乱症 脱氧基氨酸酶乱症脱氧基氨酸合成酶缺乏症

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