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The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. MacDonald A, et al. Among authors: rocha jc. Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9. Mol Genet Metab. 2015. PMID: 26498184
Nutrition in phenylketonuria.
MacDonald A, Rocha JC, van Rijn M, Feillet F. MacDonald A, et al. Among authors: rocha jc. Mol Genet Metab. 2011;104 Suppl:S10-8. doi: 10.1016/j.ymgme.2011.08.023. Epub 2011 Sep 2. Mol Genet Metab. 2011. PMID: 21944460 Review.
Optimising growth in phenylketonuria: current state of the clinical evidence base.
Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A. Dokoupil K, et al. Among authors: rocha jc. Clin Nutr. 2012 Feb;31(1):16-21. doi: 10.1016/j.clnu.2011.09.001. Epub 2011 Sep 29. Clin Nutr. 2012. PMID: 21959353 Review.
Use of sapropterin in the management of phenylketonuria: seven case reports.
Gokmen Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K. Gokmen Ozel H, et al. Among authors: rocha jc. Mol Genet Metab. 2013 Feb;108(2):109-11. doi: 10.1016/j.ymgme.2012.11.012. Epub 2012 Nov 28. Mol Genet Metab. 2013. PMID: 23266371
Main issues in micronutrient supplementation in phenylketonuria.
Lammardo AM, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K, Ozel HG, Goyens P, Feillet F. Lammardo AM, et al. Among authors: rocha jc. Mol Genet Metab. 2013;110 Suppl:S1-5. doi: 10.1016/j.ymgme.2013.08.008. Epub 2013 Aug 19. Mol Genet Metab. 2013. PMID: 24018009 Review.
229 results