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977 results

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Page 1
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. Quental S, et al. Among authors: martins e. Mol Genet Metab. 2008 Jun;94(2):148-56. doi: 10.1016/j.ymgme.2008.02.008. Epub 2008 Apr 2. Mol Genet Metab. 2008. PMID: 18378174
Liver transplantation in a case of argininaemia.
Santos Silva E, Martins E, Cardoso ML, Barbot C, Vilarinho L, Medina M. Santos Silva E, et al. Among authors: martins e. J Inherit Metab Dis. 2001 Dec;24(8):885-7. doi: 10.1023/a:1013960712516. J Inherit Metab Dis. 2001. PMID: 11916327 No abstract available.
Maple syrup disease presenting as paroxysmal dystonia.
Temudo T, Martins E, Poças F, Cruz R, Vilarinho L. Temudo T, et al. Among authors: martins e. Ann Neurol. 2004 Nov;56(5):749-50. doi: 10.1002/ana.20288. Ann Neurol. 2004. PMID: 15505779 No abstract available.
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: martins e. 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
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. Among authors: martins e. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
977 results