Martins E - Search Results

1

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.

Barroso F, Correia J, Bandeira A, Carmona C, Vilarinho L, Almeida M, Rocha JC, Martins E. Barroso F, et al. Among authors: martins e. Rev Paul Pediatr. 2020 Jun 5;38:e2018158. doi: 10.1590/1984-0462/2020/38/2018158. eCollection 2020. Rev Paul Pediatr. 2020. PMID: 32520295 Free PMC article. Review.

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

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

5

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

6

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.

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

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

9

Outcome of three cases of untreated maternal glutaric aciduria type I.

Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Garcia P, et al. Among authors: martins e. Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28. Eur J Pediatr. 2008. PMID: 17661081

10

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Nogueira C, et al. Among authors: martins e. Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27. Mol Genet Metab. 2008. PMID: 18164228

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