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Items: 5

1.

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.

J Nutr Biochem. 2018 Mar;53:20-27. doi: 10.1016/j.jnutbio.2017.09.020. Epub 2017 Oct 12.

PMID:
29175141
2.

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.

Kienstra NS, van Reemst HE, van Ginkel WG, Daly A, van Dam E, MacDonald A, Burgerhof JGM, de Blaauw P, McKiernan PJ, Heiner-Fokkema MR, van Spronsen FJ.

J Inherit Metab Dis. 2018 Mar;41(2):181-186. doi: 10.1007/s10545-017-0112-9. Epub 2017 Nov 23.

3.

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.

van Ginkel WG, van Vliet D, Burgerhof JGM, de Blaauw P, Rubio Gozalbo ME, Heiner-Fokkema MR, van Spronsen FJ.

PLoS One. 2017 Sep 26;12(9):e0185342. doi: 10.1371/journal.pone.0185342. eCollection 2017.

4.

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.

Am J Clin Nutr. 2016 Nov;104(5):1292-1300. Epub 2016 Sep 21.

PMID:
27655443
5.

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.

PLoS One. 2015 Dec 1;10(12):e0143833. doi: 10.1371/journal.pone.0143833. eCollection 2015.

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