Ribeiro I - Search Results

1

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Encarnação M, Ribeiro I, David H, Coutinho MF, Quelhas D, Alves S. Encarnação M, et al. Among authors: ribeiro i. Genes (Basel). 2023 Oct 25;14(11):1990. doi: 10.3390/genes14111990. Genes (Basel). 2023. PMID: 38002933 Free PMC article. Review.

2

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: ribeiro i. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.

3

Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.

Hammerschmidt TG, Encarnação M, Lamberty Faverzani J, de Fátima Lopes F, Poswar de Oliveira F, Fischinger Moura de Sousa C, Ribeiro I, Alves S, Giugliani R, Regla Vargas C. Hammerschmidt TG, et al. Among authors: ribeiro i. Arch Biochem Biophys. 2023 Feb;735:109510. doi: 10.1016/j.abb.2023.109510. Epub 2023 Jan 4. Arch Biochem Biophys. 2023. PMID: 36608914

4

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

Ouesleti S, Coutinho MF, Ribeiro I, Miled A, Mosbahi DS, Alves S. Ouesleti S, et al. Among authors: ribeiro i. World J Pediatr. 2017 Aug;13(4):374-380. doi: 10.1007/s12519-017-0005-x. Epub 2017 Jan 19. World J Pediatr. 2017. PMID: 28101780

5

Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.

Da Silva JD, Ribeiro I, Caseiro C, Pinto E, Rocha S, Ribeiro H, Ferreira C, Silva E, Laranjeira F, Tkachenko N, Lacerda L, Quelhas D. Da Silva JD, et al. Among authors: ribeiro h, ribeiro i. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114414. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711123

6

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: ribeiro i. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551

7

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: ribeiro i. 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.

8

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: ribeiro mg, ribeiro i. 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.

9

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G. Ribeiro I, et al. Hum Genet. 2001 Jul;109(1):24-32. doi: 10.1007/s004390100531. Hum Genet. 2001. PMID: 11479732

10

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: ribeiro i. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343

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