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

Year Number of Results
2003 1
2005 1
2007 1
2008 1
2009 2
2010 4
2011 1
2012 3
2013 3
2014 6
2015 6
2016 4
2017 2
2018 2
2019 3
2020 2
2021 4
2022 1
2023 1
2024 3

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42 results

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Page 1
Sweet and sour: an update on classic galactosemia.
Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Coelho AI, et al. Among authors: rivera i. J Inherit Metab Dis. 2017 May;40(3):325-342. doi: 10.1007/s10545-017-0029-3. Epub 2017 Mar 9. J Inherit Metab Dis. 2017. PMID: 28281081 Free PMC article. Review.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: rivera ia. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. Sperl W, et al. Among authors: rivera i. J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526709 Review.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: rivera ia. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
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. Among authors: rivera i. 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.
Darier disease: first molecular study of a Portuguese family.
Almeida A, Lobo ML, Moura C, Rivera I. Almeida A, et al. Among authors: rivera i. Heliyon. 2019 Sep 26;5(9):e02520. doi: 10.1016/j.heliyon.2019.e02520. eCollection 2019 Sep. Heliyon. 2019. PMID: 31687605 Free PMC article.
Changes in macrophage function modulated by the lipid environment.
Williams MR, Cauvi DM, Rivera I, Hawisher D, De Maio A. Williams MR, et al. Among authors: rivera i. Innate Immun. 2016 Apr;22(3):141-51. doi: 10.1177/1753425916633886. Epub 2016 Mar 7. Innate Immun. 2016. PMID: 26951856 Free PMC article.
42 results