Frequency of Congenital Sucrase-Isomaltase Deficiency by Whole Exome Sequencing: Is It Really Rare?

Frequency of Congenital Sucrase-Isomaltase Deficiency by Whole Exome Sequencing: Is It Really Rare?

Aim: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disease with a mutation in the sucrase-isomaltase (SI) gene and disaccharide maldigestion. With limited data, the estimated incidence of this disease is 57.59/10⁶ births and its heterozygosity rate is 1/132. We aimed to e...

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Bibliographic Details
Main Authors: Fatma İssi Irlayıcı, Halil Özbaş, Hakan Salman, Mustafa Akçam
Format: Article
Language:English
Published: Galenos Yayinevi 2024-12-01
Series:Journal of Pediatric Research
Subjects:
heterozygous carriers
prevalence
sucrase-isomaltase deficiency
sucrose
whole exome sequence analysis
Online Access:https://jpedres.org/articles/frequency-of-congenital-sucrase-isomaltase-deficiency-by-whole-exome-sequencing-is-it-really-rare/doi/jpr.galenos.2024.65625
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https://jpedres.org/articles/frequency-of-congenital-sucrase-isomaltase-deficiency-by-whole-exome-sequencing-is-it-really-rare/doi/jpr.galenos.2024.65625

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