Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually be...

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Autores principales: Jianli Zhou, Yuzhen Zhao, Xia Qian, Yongwei Cheng, Huabo Cai, Moxian Chen, Shaoming Zhou
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/f3bf4bb256144553994d64457f6f0b66
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