Associated Papers
Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.
Li P et al.
Human Molecular Genetics, 2025
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
Gayathri S et al.
European Journal of Neurology, 2021
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
Udhayabanu T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA et al.
Journal of Human Genetics, 2012
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