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The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Hum Reprod Update. 2023 Mar 1;29(2):246-258. doi: 10.1093/humupd/dmac041.
Hum Reprod Update. 2023.
PMID: 36512573
Free PMC article.
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
Delnoy B, Haskovic M, Vanoevelen J, Steinbusch LKM, Vos EN, Knoops K, Zimmermann LJI, Noga M, Lefeber DJ, Martini PGV, Coelho AI, Rubio-Gozalbo ME.
Delnoy B, et al. Among authors: vos en.
J Inherit Metab Dis. 2022 Jul;45(4):748-758. doi: 10.1002/jimd.12512. Epub 2022 May 27.
J Inherit Metab Dis. 2022.
PMID: 35527402
Free PMC article.
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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
Vos EN, Demirbas D, Mangel M, Gozalbo MER, Levy HL, Berry GT.
Vos EN, et al.
Mol Genet Metab. 2023 Nov;140(3):107693. doi: 10.1016/j.ymgme.2023.107693. Epub 2023 Aug 30.
Mol Genet Metab. 2023.
PMID: 37716025
Review.
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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: vos en.
Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024.
Front Genet. 2024.
PMID: 38425716
Free PMC article.
Review.
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BrainWiki-A Wiki-Style, User Driven, Comparative Brain Anatomy Tool.
Forsell L, Vos EN, Jayaraman K, Edman A, Hussaini SA.
Forsell L, et al. Among authors: vos en.
Front Neuroanat. 2020 Oct 19;14:548172. doi: 10.3389/fnana.2020.548172. eCollection 2020.
Front Neuroanat. 2020.
PMID: 33192339
Free PMC article.
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