Associated Papers
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Chen Y et al.
Orphanet Journal of Rare Diseases, 2021
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Porta F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Bottega R et al.
Journal of Human Genetics, 2019
Select a paper to view details