Associated Papers
Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.
Zeng J et al.
Biomedicines, 2025
A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.
Zheng Y et al.
Lipids in Health and Disease, 2024
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
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.
Li J et al.
Frontiers in Pediatrics, 2023
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase.
Schlegel C et al.
Traffic (copenhagen, Denmark), 2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM et al.
Gastroenterology, 2018
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea.
Gluchowski NL et al.
Journal of Lipid Research, 2017
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