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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: van roermund cwt, van faassen m, van karnebeek cdm. 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: van faassen mh, van der zee ea, van anholt rd, van spronsen fj. PLoS One. 2015 Dec 1;10(12):e0143833. doi: 10.1371/journal.pone.0143833. eCollection 2015. PLoS One. 2015. PMID: 26624009 Free PMC article.
Effects of Hydrocortisone on the Regulation of Blood Pressure: Results From a Randomized Controlled Trial.
Werumeus Buning J, van Faassen M, Brummelman P, Dullaart RP, van den Berg G, van der Klauw MM, Kerstens MN, Stegeman CA, Muller Kobold AC, Kema IP, Wolffenbuttel BH, van Beek AP. Werumeus Buning J, et al. Among authors: van der klauw mm, van beek ap, van faassen m, van den berg g. J Clin Endocrinol Metab. 2016 Oct;101(10):3691-3699. doi: 10.1210/jc.2016-2216. Epub 2016 Aug 4. J Clin Endocrinol Metab. 2016. PMID: 27490921 Clinical Trial.
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: van faassen mh, van der zee ea, van spronsen fj. 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.
The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
Bruinenberg VM, van der Goot E, van Vliet D, de Groot MJ, Mazzola PN, Heiner-Fokkema MR, van Faassen M, van Spronsen FJ, van der Zee EA. Bruinenberg VM, et al. Among authors: van der goot e, van vliet d, van faassen m, van der zee ea, van spronsen fj. Front Behav Neurosci. 2016 Dec 20;10:233. doi: 10.3389/fnbeh.2016.00233. eCollection 2016. Front Behav Neurosci. 2016. PMID: 28066199 Free PMC article.
Vitamin B-6 deficiency is common and associated with poor long-term outcome in renal transplant recipients.
Minović I, Riphagen IJ, van den Berg E, Kootstra-Ros JE, van Faassen M, Gomes Neto AW, Geleijnse JM, Gans RO, Eggersdorfer M, Navis GJ, Kema IP, Bakker SJ. Minović I, et al. Among authors: van faassen m, van den berg e. Am J Clin Nutr. 2017 Jun;105(6):1344-1350. doi: 10.3945/ajcn.116.151431. Epub 2017 May 3. Am J Clin Nutr. 2017. PMID: 28468895 Free article.
106 results