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Biopterin responsive phenylalanine hydroxylase deficiency.
Matalon R, Koch R, Michals-Matalon K, Moseley K, Surendran S, Tyring S, Erlandsen H, Gamez A, Stevens RC, Romstad A, Møller LB, Guttler F. Matalon R, et al. Among authors: tyring s. Genet Med. 2004 Jan-Feb;6(1):27-32. doi: 10.1097/01.gim.0000108840.17922.a7. Genet Med. 2004. PMID: 14726806 Clinical Trial.
Response of phenylketonuria to tetrahydrobiopterin.
Michals-Matalon K, Bhatia G, Guttler F, Tyring SK, Matalon R. Michals-Matalon K, et al. J Nutr. 2007 Jun;137(6 Suppl 1):1564S-1567S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1564S. J Nutr. 2007. PMID: 17513426 Free article.
Large neutral amino acids in the treatment of phenylketonuria (PKU).
Matalon R, Michals-Matalon K, Bhatia G, Grechanina E, Novikov P, McDonald JD, Grady J, Tyring SK, Guttler F. Matalon R, et al. Among authors: tyring sk. J Inherit Metab Dis. 2006 Dec;29(6):732-8. doi: 10.1007/s10545-006-0395-8. Epub 2006 Sep 21. J Inherit Metab Dis. 2006. PMID: 16988900
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Erlandsen H, Pey AL, Gámez A, Pérez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martínez A, Stevens RC. Erlandsen H, et al. Among authors: tyring s. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. doi: 10.1073/pnas.0407256101. Epub 2004 Nov 19. Proc Natl Acad Sci U S A. 2004. PMID: 15557004 Free PMC article.
Canavan disease: a monogenic trait with complex genomic interaction.
Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R. Surendran S, et al. Among authors: tyring sk. Mol Genet Metab. 2003 Sep-Oct;80(1-2):74-80. doi: 10.1016/j.ymgme.2003.08.015. Mol Genet Metab. 2003. PMID: 14567959 Review.
Trends in enzyme therapy for phenylketonuria.
Kim W, Erlandsen H, Surendran S, Stevens RC, Gamez A, Michols-Matalon K, Tyring SK, Matalon R. Kim W, et al. Among authors: tyring sk. Mol Ther. 2004 Aug;10(2):220-4. doi: 10.1016/j.ymthe.2004.05.001. Mol Ther. 2004. PMID: 15294168 Free article. Review.
853 results