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Page 1
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: moseley kd. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Singh RH, Cunningham AC, Mofidi S, Douglas TD, Frazier DM, Hook DG, Jeffers L, McCune H, Moseley KD, Ogata B, Pendyal S, Skrabal J, Splett PL, Stembridge A, Wessel A, Rohr F. Singh RH, et al. Among authors: moseley kd. Mol Genet Metab. 2016 Jun;118(2):72-83. doi: 10.1016/j.ymgme.2016.04.008. Epub 2016 Apr 17. Mol Genet Metab. 2016. PMID: 27211276 Review.
Newborn screening 50 years later: access issues faced by adults with PKU.
Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S. Berry SA, et al. Genet Med. 2013 Aug;15(8):591-9. doi: 10.1038/gim.2013.10. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470838 Free PMC article. Review.
The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings.
Rohr F, Munier A, Sullivan D, Bailey I, Gennaccaro M, Levy H, Brereton H, Gleason S, Goss B, Lesperance E, Moseley K, Singh R, Tonyes L, Vespa H, Waisbren S. Rohr F, et al. J Inherit Metab Dis. 2004;27(2):145-55. doi: 10.1023/B:BOLI.0000028785.20901.d9. J Inherit Metab Dis. 2004. PMID: 15159645 Clinical Trial.
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
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
28 results