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Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Schwantje M, et al. Among authors: fuchs sa. J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13. J Inherit Metab Dis. 2020. PMID: 31605543 Free PMC article. Review.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: fuchs sa. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. Among authors: fuchs sa. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875423 Free PMC article.
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE, Oostendorp M, van den Broek BTA, van Veghel K, Nonkes LJP, Nieuwenhuis EES, Fuchs SA, Veenendaal T, Klumperman J, Huisman A, Nierkens S, van Hasselt PM. Kuper WFE, et al. Among authors: fuchs sa. JIMD Rep. 2020 Jun 2;54(1):87-97. doi: 10.1002/jmd2.12128. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685355 Free PMC article.
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Genet Med. 2021 Oct;23(10):2024. doi: 10.1038/s41436-020-00966-1. Genet Med. 2021. PMID: 32934367 Free PMC article. No abstract available.
Prime editing for functional repair in patient-derived disease models.
Schene IF, Joore IP, Oka R, Mokry M, van Vugt AHM, van Boxtel R, van der Doef HPJ, van der Laan LJW, Verstegen MMA, van Hasselt PM, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: fuchs sa. Nat Commun. 2020 Oct 23;11(1):5352. doi: 10.1038/s41467-020-19136-7. Nat Commun. 2020. PMID: 33097693 Free PMC article.
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.
Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M. Molema F, et al. Clin Nutr. 2021 May;40(5):3622-3630. doi: 10.1016/j.clnu.2020.12.027. Epub 2020 Dec 25. Clin Nutr. 2021. PMID: 33451859 Free article.
66 results