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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS. Betsalel OT, et al. Eur J Hum Genet. 2011 Jan;19(1):56-63. doi: 10.1038/ejhg.2010.134. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717164 Free PMC article.
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.
190 results