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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: bosch am. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Keil S, et al. Among authors: bosch am. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Among authors: bosch am. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
Classical galactosaemia revisited.
Bosch AM. Bosch AM. J Inherit Metab Dis. 2006 Aug;29(4):516-25. doi: 10.1007/s10545-006-0382-0. Epub 2006 Jul 11. J Inherit Metab Dis. 2006. PMID: 16838075 Review.
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, Ter Horst NM, Rubio-Gozalbo ME, Bosch AM. Demirdas S, et al. Among authors: bosch am. Ann Nutr Metab. 2017;70(2):111-121. doi: 10.1159/000465529. Epub 2017 Mar 24. Ann Nutr Metab. 2017. PMID: 28334709 Free PMC article.
174 results