Vilarinho L - Search Results

1

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.

Rivera I, Cabral A, Almeida M, Leandro P, Carmona C, Eusébio F, Tasso T, Vilarinho L, Martins E, Lechner MC, de Almeida IT, Konecki DS, Lichter-Konecki U. Rivera I, et al. Among authors: vilarinho l. Mol Genet Metab. 2000 Mar;69(3):195-203. doi: 10.1006/mgme.2000.2971. Mol Genet Metab. 2000. PMID: 10767174

2

A mild form of infantile isolated sulphite oxidase deficiency.

Barbot C, Martins E, Vilarinho L, Dorche C, Cardoso ML. Barbot C, et al. Among authors: vilarinho l. Neuropediatrics. 1995 Dec;26(6):322-4. doi: 10.1055/s-2007-979783. Neuropediatrics. 1995. PMID: 8719749

3

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J. Cardoso ML, et al. Among authors: vilarinho l. Hum Mutat. 1999 Oct;14(4):355-6. doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I. Hum Mutat. 1999. PMID: 10502833

4

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Rocha H, Cabral A, Vilarinho L. Rocha H, et al. Among authors: vilarinho l. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L. Hum Mutat. 2000. PMID: 11058918 No abstract available.

5

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: vilarinho l. 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.

6

Prolidase deficiency with hyperimmunoglobulin E: a case report.

Lopes I, Marques L, Neves E, Silva A, Taveira M, Pena R, Vilarinho L, Martins E. Lopes I, et al. Among authors: vilarinho l. Pediatr Allergy Immunol. 2002 Apr;13(2):140-2. doi: 10.1034/j.1399-3038.2002.00075.x. Pediatr Allergy Immunol. 2002. PMID: 12000488 Free article.

7

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.

Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L. Azevedo L, et al. Among authors: vilarinho l. Mol Genet Metab. 2003 Feb;78(2):152-7. doi: 10.1016/s1096-7192(03)00019-2. Mol Genet Metab. 2003. PMID: 12618087

8

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

Cardoso ML, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L. Cardoso ML, et al. Among authors: vilarinho l. Mol Genet Metab. 2004 Aug;82(4):334-8. doi: 10.1016/j.ymgme.2004.06.003. Mol Genet Metab. 2004. PMID: 15308132

9

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

10

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

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