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2010 4
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Page 1
Exome sequencing in Brown-Vialetto-van Laere syndrome.
Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Johnson JO, et al. Am J Hum Genet. 2010 Oct 8;87(4):567-9; author reply 569-70. doi: 10.1016/j.ajhg.2010.05.021. Am J Hum Genet. 2010. PMID: 20920669 Free PMC article. No abstract available.
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.
Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.
Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.
Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K. Yoshimatsu H, et al. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G102-10. doi: 10.1152/ajpgi.00349.2013. Epub 2013 Nov 21. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24264046 Free article.
12 results