Martins E - Search Results

1

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.

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: martins e. Neuropediatrics. 1995 Dec;26(6):322-4. doi: 10.1055/s-2007-979783. Neuropediatrics. 1995. PMID: 8719749

3

Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Martins E, Costa A, Silva E, Medina M, Cardoso ML, Vianey-Saban C, Divry P, Vilarinho L. Martins E, et al. J Inherit Metab Dis. 1996;19(3):373-4. doi: 10.1007/BF01799273. J Inherit Metab Dis. 1996. PMID: 8803786 No abstract available.

4

Glycogen storage disease type IV presenting as hydrops fetalis.

Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I. Alegria A, et al. Among authors: martins e. J Inherit Metab Dis. 1999 May;22(3):330-2. doi: 10.1023/a:1005568507267. J Inherit Metab Dis. 1999. PMID: 10384399 No abstract available.

5

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: martins e. 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

6

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: martins e. Mol Genet Metab. 2000 Mar;69(3):195-203. doi: 10.1006/mgme.2000.2971. Mol Genet Metab. 2000. PMID: 10767174

7

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: martins e. 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.

8

[Galactosemia: the genotype and phenotype of seven patients].

Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. Martins E, et al. Rev Neurol. 2004 Jun 16-30;38(12):1132-5. Rev Neurol. 2004. PMID: 15229825 Spanish.

9

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: martins e. Mol Genet Metab. 2004 Aug;82(4):334-8. doi: 10.1016/j.ymgme.2004.06.003. Mol Genet Metab. 2004. PMID: 15308132

10

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

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