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References

These sources were used to develop the Genetics Home Reference condition summary on Brown-Vialetto-Van Laere syndrome.

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, 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-z. Epub 2010 Nov 26. PubMed citation
Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005 Sep;27(6):443-6. Epub 2004 Dec 15. PubMed citation
Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4. PubMed citation
Nabokina SM, Subramanian VS, Said HM. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). Mol Genet Metab. 2012 Apr;105(4):652-7. doi: 10.1016/j.ymgme.2011.12.021. Epub 2012 Jan 5. PubMed citation
Oregon State University Linus Pauling Institute: Riboflavin
Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. Review. PubMed citation

Reviewed: August 2012

Published: May 20, 2013