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
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.
Deolet E et al.
Virchows Archiv : an International Journal of Pathology, 2022
New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.
Eldredge JA et al.
The Journal of Pediatrics, 2021
Prime editing for functional repair in patient-derived disease models.
Schene IF et al.
Nature Communications, 2020
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM et al.
Gastroenterology, 2018
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