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Results 1 - 3 of 3 for "Brown-Vialetto-van" Laere syndrome 1
Did you mean "Brown-Vialetto-van" layer syndrome 1?
  1. Riboflavin transporter deficiency neuronopathy 
    ... sensorineural deafness Riboflavin transporter deficiency Genetic Testing Registry: Brown-Vialetto-van Laere syndrome 1 Riboflavin transporter deficiency National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  2. SLC52A3 gene 
    ... Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242- ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  3. SLC52A2 gene 
    ... disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. Some of the gene ... transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6): ...
    https://medlineplus.gov/genetics/gene/slc52a2 - Genetics