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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: mckiernan p. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
Recommendations for the management of tyrosinaemia type 1.
de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U. de Laet C, et al. Among authors: mckiernan p. Orphanet J Rare Dis. 2013 Jan 11;8:8. doi: 10.1186/1750-1172-8-8. Orphanet J Rare Dis. 2013. PMID: 23311542 Free PMC article. Review.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: mckiernan pj. Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2. Orphanet J Rare Dis. 2019. PMID: 31801588 Free PMC article.
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
van Ginkel WG, Jahja R, Huijbregts SC, Daly A, MacDonald A, De Laet C, Cassiman D, Eyskens F, Körver-Keularts IM, Goyens PJ, McKiernan PJ, van Spronsen FJ. van Ginkel WG, et al. Orphanet J Rare Dis. 2016 Jun 29;11(1):87. doi: 10.1186/s13023-016-0472-5. Orphanet J Rare Dis. 2016. PMID: 27356512 Free PMC article.
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: mckiernan pj. 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.
273 results