Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Text availability

Article attribute

Article type

Publication date

Search Results

42 results

Results by year

Filters applied: . Clear all
Page 1
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.
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.
An efficient method for simultaneous species, individual, and sex identification via in-solution single nucleotide polymorphism capture from low-quality scat samples.
Parker LD, Campana MG, Quinta JD, Cypher B, Rivera I, Fleischer RC, Ralls K, Wilbert TR, Boarman R, Boarman WI, Maldonado JE. Parker LD, et al. Among authors: rivera i. Mol Ecol Resour. 2022 May;22(4):1345-1361. doi: 10.1111/1755-0998.13552. Epub 2021 Nov 25. Mol Ecol Resour. 2022. PMID: 34779133
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I. Pavlu-Pereira H, et al. Among authors: rivera i. Orphanet J Rare Dis. 2020 Oct 22;15(1):298. doi: 10.1186/s13023-020-01586-3. Orphanet J Rare Dis. 2020. PMID: 33092611 Free PMC article.
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.
42 results