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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Detalles Bibliográficos
Autores principales: Zhou, Jianli, Zhao, Yuzhen, Qian, Xia, Cheng, Yongwei, Cai, Huabo, Chen, Moxian, Zhou, Shaoming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675567/
https://www.ncbi.nlm.nih.gov/pubmed/34926337
http://dx.doi.org/10.3389/fped.2021.731716

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675567/
https://www.ncbi.nlm.nih.gov/pubmed/34926337
http://dx.doi.org/10.3389/fped.2021.731716

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