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The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: muntau ac. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5-11 Years.
Lalia JK, Schild R, Lütgehetmann M, Dunay GA, Kallinich T, Kobbe R, Massoud M, Oh J, Pietzsch L, Schulze-Sturm U, Schuetz C, Sibbertsen F, Speth F, Thieme S, Witkowski M, Berner R, Muntau AC, Gersting SW, Toepfner N, Pagel J, Paul K. Lalia JK, et al. Among authors: muntau ac. Viruses. 2023 Jul 14;15(7):1553. doi: 10.3390/v15071553. Viruses. 2023. PMID: 37515239 Free PMC article.
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Gersting SW, Lagler FB, Eichinger A, Kemter KF, Danecka MK, Messing DD, Staudigl M, Domdey KA, Zsifkovits C, Fingerhut R, Glossmann H, Roscher AA, Muntau AC. Gersting SW, et al. Among authors: muntau ac. Hum Mol Genet. 2010 May 15;19(10):2039-49. doi: 10.1093/hmg/ddq085. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179079 Free article.
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC. Lagler FB, et al. Among authors: muntau ac. Biochem Pharmacol. 2010 Nov 15;80(10):1563-71. doi: 10.1016/j.bcp.2010.07.042. Epub 2010 Aug 10. Biochem Pharmacol. 2010. PMID: 20705059
Up to date knowledge on different treatment strategies for phenylketonuria.
Bélanger-Quintana A, Burlina A, Harding CO, Muntau AC. Bélanger-Quintana A, et al. Among authors: muntau ac. Mol Genet Metab. 2011;104 Suppl(0):S19-25. doi: 10.1016/j.ymgme.2011.08.009. Epub 2011 Aug 16. Mol Genet Metab. 2011. PMID: 21967857 Free PMC article. Review.
120 results