Martins E - Search Results

1

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.

Pena MJ, Pinto A, de Almeida MF, de Sousa Barbosa C, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, Dias CC, MacDonald A, Borges N, Rocha JC. Pena MJ, et al. Among authors: martins e. Orphanet J Rare Dis. 2021 Feb 13;16(1):84. doi: 10.1186/s13023-021-01721-8. Orphanet J Rare Dis. 2021. PMID: 33581730 Free PMC article.

2

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

3

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Ferreira F, Esteves S, Almeida LS, Gaspar A, da Costa CD, Janeiro P, Bandeira A, Martins E, Teles EL, Garcia P, Azevedo L, Vilarinho L. Ferreira F, et al. Among authors: martins e. Gene. 2013 Sep 15;527(1):366-70. doi: 10.1016/j.gene.2013.05.025. Epub 2013 Jun 17. Gene. 2013. PMID: 23791655

4

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L. Sá MJ, et al. Among authors: martins e. JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303611 Free PMC article.

5

Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.

Pinto A, Almeida MF, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, MacDonald A, Rocha JC. Pinto A, et al. Among authors: martins e. Eur J Clin Nutr. 2017 Oct;71(10):1230-1234. doi: 10.1038/ejcn.2017.38. Epub 2017 Apr 12. Eur J Clin Nutr. 2017. PMID: 28402322

6

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report.

Pinto A, Almeida MF, Cunha A, Carmona C, Rocha S, Guimas A, Ribeiro R, Mota CR, Martins E, MacDonald A, Rocha JC. Pinto A, et al. Among authors: martins e. Mol Genet Metab Rep. 2017 Oct 18;13:105-110. doi: 10.1016/j.ymgmr.2017.10.004. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 29085781 Free PMC article.

7

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, Martins E. Quelhas D, et al. Among authors: martins e. JIMD Rep. 2019;43:111-116. doi: 10.1007/8904_2018_112. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923091 Free PMC article.

8

Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.

Pinto A, Almeida MF, MacDonald A, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, Jackson R, van Spronsen F, Payne A, Rocha JC. Pinto A, et al. Among authors: martins e. Nutrients. 2019 Apr 30;11(5):995. doi: 10.3390/nu11050995. Nutrients. 2019. PMID: 31052331 Free PMC article.

9

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.

Sousa C, Almeida MF, Sousa Barbosa C, Martins E, Janeiro P, Tavares de Almeida I, MacDonald A, Rocha JC. Sousa C, et al. Among authors: martins e. J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):623-629. doi: 10.1515/jpem-2018-0527. J Pediatr Endocrinol Metab. 2019. PMID: 31141484

10

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.

Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM. Henriques BJ, et al. Among authors: martins e. Curr Mol Med. 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. Curr Mol Med. 2019. PMID: 31418342

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