Associated Papers
Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.
Zeng J et al.
Biomedicines, 2025
A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations.
Millman P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.
Shi C et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
36064943 (PubMed )
Supplement: 41525_2022_326_MOESM1_ESM.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM et al.
Gastroenterology, 2018
Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets.
Ratchford TL et al.
Journal of Pediatric Gastroenterology and Nutrition, 2018
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