Brown-Vialetto-Van Laere syndrome
Definition:
References:
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[1]. A Reghan Foley, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56. [Content Brief]
[2]. Tamilarasan Udhayabanu, et al. 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. Clin Chim Acta. 2016 Nov 1;462:210-214. [Content Brief]
[3]. Tobias B Haack, et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6):943-8. [Content Brief]
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