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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. 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
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. 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
Micronutrient status in phenylketonuria.
Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Goyens P, Feillet F. Robert M, et al. Mol Genet Metab. 2013;110 Suppl:S6-17. doi: 10.1016/j.ymgme.2013.09.009. Epub 2013 Sep 19. Mol Genet Metab. 2013. PMID: 24113686 Review.
Weight Management in Phenylketonuria: What Should Be Monitored.
Rocha JC, van Rijn M, van Dam E, Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Robert M, Heidenborg C, MacDonald A. Rocha JC, et al. Ann Nutr Metab. 2016;68(1):60-5. doi: 10.1159/000442304. Epub 2015 Nov 25. Ann Nutr Metab. 2016. PMID: 26598928 Free article. Review.
Dietary practices in methylmalonic acidaemia: a European survey.
Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Hansen KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, MacDonald A. Pinto A, et al. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
91 results