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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2007 2
2008 3
2010 1
2011 2
2013 5
2014 2
2015 2
2016 1
2017 2
2018 2
2019 10
2020 9
2021 8
2022 3
2023 5
2024 1

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53 results

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Page 1
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R, Gaspar A, Aguiar P, Garcia P, Cardoso MT, Rodrigues E, Leão-Teles E, Giugliani R, Coutinho MF, Alves S, Macedo MF. Lopes N, et al. Among authors: martins e. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: martins eg. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
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. Among authors: martins e. 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.
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.
Symmetric asymptomatic reticular lesions of the skin.
Barroso F, Correia J, Loureiro M, Martins E. Barroso F, et al. Among authors: martins e. J Paediatr Child Health. 2017 Oct;53(10):1024. doi: 10.1111/jpc.1_13513. J Paediatr Child Health. 2017. PMID: 28975746 No abstract available.
MAN1B1 deficiency: an unexpected CDG-II.
Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. Rymen D, et al. Among authors: martins e. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348268 Free PMC article.
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS, Nogueira C, Pereira C, Janeiro P, Ferreira S, Lourenço CM, Bandeira A, Martins E, Magalhães M, Rodrigues E, Santos H, Ferreira AC, Vilarinho L. Baldo MS, et al. Among authors: martins e. Genes (Basel). 2023 Jul 27;14(8):1536. doi: 10.3390/genes14081536. Genes (Basel). 2023. PMID: 37628588 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. Among authors: martins e. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
53 results