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Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, Williams DP, Ranganath LR, Gallagher JA, Jarvis JC.
Ann Rheum Dis · research support, non-u.s. gov't; journal article · DOI 10.1136/annrheumdis-2012-202878Ranganath LR, Jarvis JC, Gallagher JA.
J Clin Pathol · research support, non-u.s. gov't; review; journal article · DOI 10.1136/jclinpath-2012-200877de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U.
Orphanet J Rare Dis · research support, non-u.s. gov't; review-article; review; journal article · DOI 10.1186/1750-1172-8-8Wisse RP, Wittebol-Post D, Visser G, van der Lelij A.
BMJ Case Rep · journal article; case reports; case-report · DOI 10.1136/bcr-2012-006301Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA.
Mol Genet Metab · research support, non-u.s. gov't; research support, u.s. gov't, non-p.h.s.; journal article · DOI 10.1016/j.ymgme.2012.05.022Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ.
J Inherit Metab Dis · journal article · DOI 10.1007/s10545-012-9482-1Pohorecka M, Biernacka M, Jakubowska-Winecka A, Biernacki M, Kuśmierska K, Kowalik A, Sykut-Cegielska J.
Pediatr Endocrinol Diabetes Metab · journal articleVanclooster A, Devlieger R, Meersseman W, Spraul A, Kerckhove KV, Vermeersch P, Meulemans A, Allegaert K, Cassiman D.
JIMD Rep · research-article; journal article · DOI 10.1007/8904_2011_88Cox TM.
JIMD Rep · research-article; journal article · DOI 10.1007/8904_2011_93Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L, Spanish Working Group on Tyrosinemia type 1.
Pediatr Int · multicenter study; journal article · DOI 10.1111/j.1442-200x.2011.03427.xManga P, Orlow SJ.
J Clin Invest · article-commentary; comment; journal article; research support, n.i.h., extramural · DOI 10.1172/jci59763Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP.
J Clin Invest · research support, n.i.h., intramural; research support, non-u.s. gov't; research-article; journal article · DOI 10.1172/jci59372Tinti L, Spreafico A, Chellini F, Galeazzi M, Santucci A.
Clin Exp Rheumatol · journal articleIntrone WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA.
Mol Genet Metab · research support, n.i.h., intramural; research-article; randomized controlled trial; journal article · DOI 10.1016/j.ymgme.2011.04.016Prieto JA, Andrade F, Lage S, Aldámiz-Echevarría L.
J Chromatogr B Analyt Technol Biomed Life Sci · comparative study; research support, non-u.s. gov't; journal article · DOI 10.1016/j.jchromb.2011.01.031Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H.
J Inherit Metab Dis · research support, non-u.s. gov't; journal article; case reports · DOI 10.1007/s10545-012-9569-8Sander J, Janzen N, Terhardt M, Sander S, Gökcay G, Demirkol M, Ozer I, Peter M, Das AM.
Clin Chim Acta · journal article · DOI 10.1016/j.cca.2010.09.027Författaruppgift saknas
Prescrire Int · comparative study; journal articleCohen AF, van Bronswijk H.
Ned Tijdschr Geneeskd · journal article · DOI 10.18773/austprescr.2009.028Williams RE, Lock EA.
Toxicology · journal article · DOI 10.1016/j.tox.2004.05.001Yang DY.
Drug News Perspect · review; journal article · DOI 10.1358/dnp.2003.16.8.829347