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A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Muñoz C, Jakobs C, Salomons GS. Almeida LS, et al. Among authors: vilarinho l. Mol Genet Metab. 2007 May;91(1):1-6. doi: 10.1016/j.ymgme.2007.01.005. Epub 2007 Mar 1. Mol Genet Metab. 2007. PMID: 17336114
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. Among authors: vilarinho l. 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.
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: vilarinho l. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L. Cardoso ML, et al. Among authors: vilarinho l. Mol Genet Metab. 2005 Jul;85(3):228-35. doi: 10.1016/j.ymgme.2005.02.009. Epub 2005 Apr 14. Mol Genet Metab. 2005. PMID: 15979035
176 results