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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: lagler f. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865
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: lagler fb. 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.
Novel pharmacological chaperones that correct phenylketonuria in mice.
Santos-Sierra S, Kirchmair J, Perna AM, Reiss D, Kemter K, Röschinger W, Glossmann H, Gersting SW, Muntau AC, Wolber G, Lagler FB. Santos-Sierra S, et al. Hum Mol Genet. 2012 Apr 15;21(8):1877-87. doi: 10.1093/hmg/dds001. Epub 2012 Jan 13. Hum Mol Genet. 2012. PMID: 22246293
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
Trefz FK, Muntau AC, Lagler FB, Moreau F, Alm J, Burlina A, Rutsch F, Bélanger-Quintana A, Feillet F; KAMPER investigators. Trefz FK, et al. Among authors: lagler fb. JIMD Rep. 2015;23:35-43. doi: 10.1007/8904_2015_425. Epub 2015 Mar 31. JIMD Rep. 2015. PMID: 25822821 Free PMC 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. 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
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. Muntau AC, et al. Among authors: lagler f. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. Mol Genet Metab. 2019. PMID: 31103398 Free article. Review.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: lagler f. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220
74 results