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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. 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.
The structural basis of phenylketonuria.
Erlandsen H, Stevens RC. Erlandsen H, et al. Mol Genet Metab. 1999 Oct;68(2):103-25. doi: 10.1006/mgme.1999.2922. Mol Genet Metab. 1999. PMID: 10527663 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: erlandsen h. Mol Ther. 2004 Aug;10(2):220-4. doi: 10.1016/j.ymthe.2004.05.001. Mol Ther. 2004. PMID: 15294168 Free article. Review.
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: erlandsen h. Genet Med. 2004 Jan-Feb;6(1):27-32. doi: 10.1097/01.gim.0000108840.17922.a7. Genet Med. 2004. PMID: 14726806 Clinical Trial.
39 results