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Single amino acid supplementation in aminoacidopathies: a systematic review.
van Vliet D, Derks TG, van Rijn M, de Groot MJ, MacDonald A, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Among authors: macdonald a. Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7. Orphanet J Rare Dis. 2014. PMID: 24422943 Free PMC article. Review.
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Blau N, et al. Among authors: macdonald a. Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Mol Genet Metab. 2009. PMID: 19208488 Review.
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: macdonald a. 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
Challenges and pitfalls in the management of phenylketonuria.
Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, Bélanger-Quintana A, Blau N. Feillet F, et al. Among authors: macdonald a. Pediatrics. 2010 Aug;126(2):333-41. doi: 10.1542/peds.2009-3584. Epub 2010 Jul 12. Pediatrics. 2010. PMID: 20624808
Nutrition in phenylketonuria.
MacDonald A, Rocha JC, van Rijn M, Feillet F. MacDonald A, et al. 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: macdonald a. 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.
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: macdonald a. 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.
2,812 results