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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR. Al-Shekaili HH, et al. Among authors: kema ip. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202. Hum Mol Genet. 2020. PMID: 32969477 Free PMC article.
Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice.
van Vliet D, Bruinenberg VM, Mazzola PN, van Faassen MH, de Blaauw P, Kema IP, Heiner-Fokkema MR, van Anholt RD, van der Zee EA, van Spronsen FJ. van Vliet D, et al. Among authors: kema ip. PLoS One. 2015 Dec 1;10(12):e0143833. doi: 10.1371/journal.pone.0143833. eCollection 2015. PLoS One. 2015. PMID: 26624009 Free PMC article.
Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model.
van Vliet D, Bruinenberg VM, Mazzola PN, van Faassen MH, de Blaauw P, Pascucci T, Puglisi-Allegra S, Kema IP, Heiner-Fokkema MR, van der Zee EA, van Spronsen FJ. van Vliet D, et al. Among authors: kema ip. Am J Clin Nutr. 2016 Nov;104(5):1292-1300. doi: 10.3945/ajcn.116.135996. Epub 2016 Sep 21. Am J Clin Nutr. 2016. PMID: 27655443 Free article.
Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice.
van Vliet D, van der Goot E, Bruinenberg VM, van Faassen M, de Blaauw P, Kema IP, Heiner-Fokkema MR, van der Zee EA, van Spronsen FJ. van Vliet D, et al. Among authors: kema ip. J Nutr Biochem. 2018 Mar;53:20-27. doi: 10.1016/j.jnutbio.2017.09.020. Epub 2017 Oct 12. J Nutr Biochem. 2018. PMID: 29175141
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der Harst P, Silljé HHW, Mateo Leach I, Hemmelder MH, Navis G, Luijckx GJ, de Brouwer APM, Venselaar H, Verbeek MM, van der Zwaag PA, Jongbloed JDH, van Tintelen JP, Wevers RA, Kema IP. van den Berg MP, et al. Among authors: kema ip. Circ Res. 2018 Mar 16;122(6):846-854. doi: 10.1161/CIRCRESAHA.117.311949. Epub 2018 Jan 17. Circ Res. 2018. PMID: 29343526 Free PMC article.
347 results