Associated Papers
Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.
Kentab AY et al.
Frontiers in Pediatrics, 2024
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3.
Dilly S et al.
Journal of Chemical Information and Modeling, 2020
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
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
Nabokina SM et al.
Molecular Genetics and Metabolism, 2012
Exome sequencing in Brown-Vialetto-van Laere syndrome.
Johnson JO et al.
American Journal of Human Genetics, 2010
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