Zhou Z et al.
Cells, 2026
Roquelaure B et al.
Orphanet Journal of Rare Diseases, 2025
Andreassen BU et al.
Jpgn Reports, 2023
Aldrian D et al.
Journal of Clinical Medicine, 2021
Cockar I et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
Dhekne HS et al.
Human Mutation, 2018
Vogel GF et al.
Traffic (copenhagen, Denmark), 2017