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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: timson dj. 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.
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Derks B, et al. Among authors: timson dj. Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. Orphanet J Rare Dis. 2022. PMID: 36056436 Free PMC article.
Type IV galactosemia.
Timson DJ. Timson DJ. Genet Med. 2019 Jun;21(6):1283-1285. doi: 10.1038/s41436-018-0359-z. Epub 2018 Nov 21. Genet Med. 2019. PMID: 30459459 Free article. No abstract available.
Galactokinase promiscuity: a question of flexibility?
McAuley M, Kristiansson H, Huang M, Pey AL, Timson DJ. McAuley M, et al. Among authors: timson dj. Biochem Soc Trans. 2016 Feb;44(1):116-22. doi: 10.1042/BST20150188. Biochem Soc Trans. 2016. PMID: 26862196 Free article. Review.
160 results