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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: koch r. Genet Med. 2004 Jan-Feb;6(1):27-32. doi: 10.1097/01.gim.0000108840.17922.a7. Genet Med. 2004. PMID: 14726806 Clinical Trial.
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: koch r. 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.
Tetrahydrobiopterin and maternal PKU.
Koch R, Moseley K, Guttler F. Koch R, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S139-41. doi: 10.1016/j.ymgme.2005.09.004. Mol Genet Metab. 2005. PMID: 16338627
2,002 results