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Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.
SLC35A2-CDG: Novel variant and review.
Quelhas D, Correia J, Jaeken J, Azevedo L, Lopes-Marques M, Bandeira A, Keldermans L, Matthijs G, Sturiale L, Martins E. Quelhas D, et al. Mol Genet Metab Rep. 2021 Jan 30;26:100717. doi: 10.1016/j.ymgmr.2021.100717. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552911 Free PMC article.
Renal involvement in PMM2-CDG, a mini-review.
Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Altassan R, et al. Among authors: quelhas d. Mol Genet Metab. 2018 Mar;123(3):292-296. doi: 10.1016/j.ymgme.2017.11.012. Epub 2017 Nov 28. Mol Genet Metab. 2018. PMID: 29229467 Review.
Assessing the effects of PMM2 variants on protein stability.
Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha JF, Teixeira Carla SS, Ferreira CR, Sousa SF, Azevedo L. Quelhas D, et al. Mol Genet Metab. 2021 Dec;134(4):344-352. doi: 10.1016/j.ymgme.2021.11.002. Epub 2021 Nov 8. Mol Genet Metab. 2021. PMID: 34863624
Galactose Epimerase Deficiency: Expanding the Phenotype.
Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P. Dias Costa F, et al. Among authors: quelhas d. JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247339 Free PMC article.
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. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: quelhas d. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G. Reynders E, et al. Among authors: quelhas d. Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3. Hum Mol Genet. 2009. PMID: 19494034 Free PMC article.
59 results