Laranjeira F - Search Results

1

Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.

Beirão I, Cabrita A, Torres M, Silva F, Aguiar P, Laranjeira F, Gomes AM. Beirão I, et al. Among authors: laranjeira f. Diseases. 2017 Jun 11;5(2):15. doi: 10.3390/diseases5020015. Diseases. 2017. PMID: 28933368 Free PMC article. Review.

2

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: laranjeira f. JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303611 Free PMC article.

3

Genotype-phenotype correlations and BH₄ estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Vieira Neto E, Laranjeira F, Quelhas D, Ribeiro I, Seabra A, Mineiro N, Carvalho LM, Lacerda L, Ribeiro MG. Vieira Neto E, et al. Among authors: laranjeira f. Mol Genet Genomic Med. 2019 May;7(5):e610. doi: 10.1002/mgg3.610. Epub 2019 Mar 3. Mol Genet Genomic Med. 2019. PMID: 30829006 Free PMC article.

4

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: laranjeira f. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551

5

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Vieira Neto E, Laranjeira F, Quelhas D, Ribeiro I, Seabra A, Mineiro N, D M Carvalho L, Lacerda L, G Ribeiro M. Vieira Neto E, et al. Among authors: laranjeira f. Mol Genet Genomic Med. 2018 May 10;6(4):575-91. doi: 10.1002/mgg3.408. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29749107 Free PMC article.

6

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Among authors: laranjeira f. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.

7

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML. Barbosa-Gouveia S, et al. Among authors: laranjeira f. Genes (Basel). 2021 Aug 19;12(8):1262. doi: 10.3390/genes12081262. Genes (Basel). 2021. PMID: 34440436 Free PMC article.

8

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: laranjeira f. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343

9

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: laranjeira f. J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173. J Pediatr Endocrinol Metab. 2016. PMID: 27710913

10

Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Quelhas da Costa R, Laranjeira F, Duarte Ribeiro I, Santos AF, Nery F. Quelhas da Costa R, et al. Among authors: laranjeira f. GE Port J Gastroenterol. 2021 Jul 7;29(4):284-290. doi: 10.1159/000517103. eCollection 2022 Jul. GE Port J Gastroenterol. 2021. PMID: 35979251 Free PMC article.

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