Associated Papers
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.
Samur BM et al.
Clinical Dysmorphology, 2022
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
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS et al.
Scientific Reports, 2021
33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
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
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