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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. Among authors: kema ip. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 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.
Functional vitamin B-6 status and long-term mortality in renal transplant recipients.
Minović I, van der Veen A, van Faassen M, Riphagen IJ, van den Berg E, van der Ley C, Gomes-Neto AW, Geleijnse JM, Eggersdorfer M, Navis GJ, Kema IP, Bakker SJ. Minović I, et al. Among authors: kema ip. Am J Clin Nutr. 2017 Dec;106(6):1366-1374. doi: 10.3945/ajcn.117.164012. Epub 2017 Oct 4. Am J Clin Nutr. 2017. PMID: 28978540 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
347 results