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Enzyme enhancers for the treatment of Fabry and Pompe disease.
Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, Zheng C, Gläser A, Beller M, Rolfs A, Giese AK. Lukas J, et al. Mol Ther. 2015 Mar;23(3):456-64. doi: 10.1038/mt.2014.224. Epub 2014 Nov 20. Mol Ther. 2015. PMID: 25409744 Free PMC article.
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H. Rolfs A, et al. Among authors: lukas j. PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013. PLoS One. 2013. PMID: 24278166 Free PMC article.
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. Giese AK, et al. Among authors: lukas j. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1. Orphanet J Rare Dis. 2015. PMID: 26082315 Free PMC article.
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.
Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J. Seemann S, et al. Among authors: lukas j. Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. Biochem J. 2020. PMID: 31899485 Free PMC article.
510 results