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Page 1
When should social service referral be considered in phenylketonuria?
van Rijn M, Ahring K, Bélanger-Quintana A, Dokoupil K, Ozel HG, Lammardo AM, Robert M, Rocha JC, MacDonald A. van Rijn M, et al. Mol Genet Metab Rep. 2015 Feb 9;2:85-88. doi: 10.1016/j.ymgmr.2015.01.002. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649533 Free PMC article.
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: van rijn m. 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: van rijn m. 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.
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. Among authors: van rijn m. 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.
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, Bihet G, Blom Malmberg K, Burlina A, Bushueva T, Caris A, Chan H, Clark A, Clark S, Cochrane B, Corthouts K, Dalmau J, Dassy M, De Meyer A, Didycz B, Diels M, Dokupil K, Dubois S, Eftring K, Ekengren J, Ellerton C, Evans S, Faria A, Fischer A, Ford S, Freisinger P, Giżewska M, Gokmen-Ozel H, Gribben J, Gunden F, Heddrich-Ellerbrok M, Heiber S, Heidenborg C, Jankowski C, Janssen-Regelink R, Jones I, Jonkers C, Joerg-Streller M, Kaalund-Hansen K, Kiss E, Lammardo AM, Lang K, Lier D, Lilje R, Lowry S, Luyten K, MacDonald A, Meyer U, Moor D, Pal A, Robert M, Robertson L, Rocha JC, Rohde C, Ross K, Saruhan S, Sjöqvist E, Skeath R, Stoelen L, Ter Horst NM, Terry A, Timmer C, Tuncer N, Vande Kerckhove K, van der Ploeg L, van Rijn M, van Spronsen FJ, van Teeffelen-Heithoff A, van Wegberg A, van Wyk K, Vasconcelos C, Vitoria I, Wildgoose J, Webster D, White FJ, Zweers H. Aguiar A, et al. Among authors: van rijn m, van der ploeg l, van wegberg a, van spronsen fj, van wyk k, van teeffelen heithoff a. Mol Genet Metab. 2015 May;115(1):17-22. doi: 10.1016/j.ymgme.2015.03.006. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25862610
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: van spronsen f, van rijn m, van dam e. 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
Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey.
Gokmen Ozel H, Ahring K, Bélanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, Rocha JC, Almeida MF, van Rijn M, MacDonald A. Gokmen Ozel H, et al. Among authors: van rijn m. Mol Genet Metab Rep. 2014 Nov 16;1:483-486. doi: 10.1016/j.ymgmr.2014.11.003. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896128 Free PMC article.
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. Among authors: van rijn m, van driessche m, van dam e. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
Dietary management practices in phenylketonuria across European centres.
Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M. Ahring K, et al. Among authors: van rijn m. Clin Nutr. 2009 Jun;28(3):231-6. doi: 10.1016/j.clnu.2009.03.004. Epub 2009 Apr 10. Clin Nutr. 2009. PMID: 19362397
238 results