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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. Johnstone DL, et al. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM. de Sain-van der Velden MG, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13. Mol Genet Metab. 2013. PMID: 23639448
Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.
Albersen M, Bosma M, Luykx JJ, Jans JJ, Bakker SC, Strengman E, Borgdorff PJ, Keijzers PJ, van Dongen EP, Bruins P, de Sain-van der Velden MG, Visser G, Knoers NV, Ophoff RA, Verhoeven-Duif NM. Albersen M, et al. Am J Clin Nutr. 2014 Aug;100(2):587-92. doi: 10.3945/ajcn.113.082008. Epub 2014 May 7. Am J Clin Nutr. 2014. PMID: 24808484 Free article.
Vitamin B6 in plasma and cerebrospinal fluid of children.
Albersen M, Bosma M, Jans JJ, Hofstede FC, van Hasselt PM, de Sain-van der Velden MG, Visser G, Verhoeven-Duif NM. Albersen M, et al. PLoS One. 2015 Mar 11;10(3):e0120972. doi: 10.1371/journal.pone.0120972. eCollection 2015. PLoS One. 2015. PMID: 25760040 Free PMC article.
Vitamin B6 is essential for serine de novo biosynthesis.
Ramos RJ, Pras-Raves ML, Gerrits J, van der Ham M, Willemsen M, Prinsen H, Burgering B, Jans JJ, Verhoeven-Duif NM. Ramos RJ, et al. J Inherit Metab Dis. 2017 Nov;40(6):883-891. doi: 10.1007/s10545-017-0061-3. Epub 2017 Aug 11. J Inherit Metab Dis. 2017. PMID: 28801717
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A. Pena IA, et al. Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23. Genetics. 2017. PMID: 29061647 Free PMC article.
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