Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Carbohydrate Intolerance and Disaccharidase Measurement - a Mini-Review;Burke;Clin Biochem Rev,2019
2. The History of Maltose-active Disaccharidases;Lentze;J Pediatr Gastroenterol Nutr,2018
3. Mutations in the translated region of then lactase gene (LCT) underlie congenital lactase deficiency;Kuokkanen;Am J Hum Genet,2006
4. Intestinal disaccharidase activities in relation to age, race, and mucosal damage;Welsh;Gastroenterology,1978
5. Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation;Marcadier;CMAJ,2015
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1. Exploring genetic variants in congenital monosaccharide‐disaccharide metabolism: Carrier ratios and phenotypic insights;Journal of Pediatric Gastroenterology and Nutrition;2024-04-29
2. Genetic and acquired sucrase‐isomaltase deficiency: A clinical review;Journal of Pediatric Gastroenterology and Nutrition;2024-02-08
3. Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function;Gut;2023-12-13
4. Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives;The Application of Clinical Genetics;2023-03
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