Heiner-Fokkema MR - Search Results

1

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.

2

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.

Kuypers AM, Vliet KE, MacDonald A, Ahring K, Abeln D, Ford S, Hildebrandt-Karlsen S, van Spronsen FJ, Heiner-Fokkema MR. Kuypers AM, et al. Among authors: heiner fokkema mr. Mol Genet Metab. 2024 May;142(1):108361. doi: 10.1016/j.ymgme.2024.108361. Epub 2024 Feb 29. Mol Genet Metab. 2024. PMID: 38442492 Free article.

3

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. PLoS One. 2015 Dec 1;10(12):e0143833. doi: 10.1371/journal.pone.0143833. eCollection 2015. PLoS One. 2015. PMID: 26624009 Free PMC article.

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. van Vliet D, et al. 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.

5

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. 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.

6

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. 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

7

The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice.

van Vliet D, van der Goot E, van Ginkel WG, van Faassen MHJR, de Blaauw P, Kema IP, Martinez A, Heiner-Fokkema MR, van der Zee EA, van Spronsen FJ. van Vliet D, et al. Nutrients. 2019 Sep 19;11(9):2252. doi: 10.3390/nu11092252. Nutrients. 2019. PMID: 31546852 Free PMC article.

8

Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study.

Riphagen IJ, Minović I, Groothof D, Post A, Eggersdorfer ML, Kootstra-Ros JE, de Borst MH, Navis G, Muskiet FAJ, Kema IP, Heiner-Fokkema MR, Bakker SJL. Riphagen IJ, et al. BMC Med. 2020 Dec 10;18(1):380. doi: 10.1186/s12916-020-01853-x. BMC Med. 2020. PMID: 33298054 Free PMC article.

9

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. van Rijt WJ, et al. J Inherit Metab Dis. 2021 Jul;44(4):926-938. doi: 10.1002/jimd.12365. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33543789 Free PMC article.

10

Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse.

Dijkstra AM, van Vliet N, van Vliet D, Romani C, Huijbregts SCJ, van der Goot E, Hovens IB, van der Zee EA, Kema IP, Heiner-Fokkema MR, van Spronsen FJ. Dijkstra AM, et al. Mol Genet Metab. 2021 Nov;134(3):250-256. doi: 10.1016/j.ymgme.2021.09.004. Epub 2021 Oct 2. Mol Genet Metab. 2021. PMID: 34656426 Free article.

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