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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Reunert J, et al. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.
Homooligomerization of ABCA3 and its functional significance.
Frixel S, Lotz-Havla AS, Kern S, Kaltenborn E, Wittmann T, Gersting SW, Muntau AC, Zarbock R, Griese M. Frixel S, et al. Int J Mol Med. 2016 Aug;38(2):558-66. doi: 10.3892/ijmm.2016.2650. Epub 2016 Jun 21. Int J Mol Med. 2016. PMID: 27352740
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D. Muntau AC, et al. Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x. Orphanet J Rare Dis. 2017. PMID: 28274234 Free PMC article. Clinical Trial.
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. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520
Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production.
Roth S, Rottach A, Lotz-Havla AS, Laux V, Muschaweckh A, Gersting SW, Muntau AC, Hopfner KP, Jin L, Vanness K, Petrini JH, Drexler I, Leonhardt H, Ruland J. Roth S, et al. Nat Immunol. 2014 Jun;15(6):538-45. doi: 10.1038/ni.2888. Epub 2014 Apr 28. Nat Immunol. 2014. PMID: 24777530 Free PMC article.
33 results