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Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.
van Vliet K, van Ginkel WG, van Dam E, de Blaauw P, Koehorst M, Kingma HA, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: van spronsen fj, van dam e, van ginkel wg. Orphanet J Rare Dis. 2020 Apr 3;15(1):82. doi: 10.1186/s13023-020-1343-7. Orphanet J Rare Dis. 2020. PMID: 32245393 Free PMC article.
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
van Vliet D, van Dam E, van Rijn M, Derks TG, Venema-Liefaard G, Hitzert MM, Lunsing RJ, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Among authors: van rijn m, van spronsen fj, van dam e. JIMD Rep. 2015;18:117-24. doi: 10.1007/8904_2014_358. Epub 2014 Sep 26. JIMD Rep. 2015. PMID: 25256450 Free PMC article.
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. MacDonald A, et al. Among authors: van spronsen f, van rijn m, van dam e. Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9. Mol Genet Metab. 2015. PMID: 26498184
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. Kienstra NS, et al. Among authors: van reemst he, van spronsen fj, van dam e, van ginkel wg. J Inherit Metab Dis. 2018 Mar;41(2):181-186. doi: 10.1007/s10545-017-0112-9. Epub 2017 Nov 23. J Inherit Metab Dis. 2018. PMID: 29170874 Free PMC article.
Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg AMJ, Evers RAF, van Dam E, de Vries MC, Janssen MCH, Heiner-Fokkema MR, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: van spronsen fj, van dam e. Mol Genet Metab. 2020 Mar;129(3):186-192. doi: 10.1016/j.ymgme.2019.12.011. Epub 2019 Dec 24. Mol Genet Metab. 2020. PMID: 31924462 Free article. Clinical Trial.
110 results