A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure
We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.
Authors
- Doğan Barut (ORCID: https://orcid.org/0000-0002-4662-4252)
- Miray Karakoyun (ORCID: https://orcid.org/0000-0002-6533-6256)
- Huseyin Onay
- Burçe Emine Dörtkardeşler (ORCID: https://orcid.org/0000-0002-6212-9286)
- Ebru Canda (ORCID: https://orcid.org/0000-0002-9175-1998)
- Sema Aydoğdu (ORCID: https://orcid.org/0000-0002-1678-7552)
Institutions
- Ege University (TR)
- Medical Genetics Center (DE)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101204
- Primary Topic
- Drug Transport and Resistance Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00