Exploring genetic variants in congenital monosaccharide‐disaccharide metabolism: Carrier ratios and phenotypic insights
Mehmet Berkay Akcan,
Fatma Silan
Abstract:ObjectivesAdverse food reactions, often underestimated, encompass congenital monosaccharide‐disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole‐exome sequence analysis (WES), determining carrier frequencies and genotype‐phenotype correlations.MethodsData from 484 patients, were retrospectively analyzed using a gene panel … Show more
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