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Page 1
Newborn screening for lysosomal storage disorders in hungary.
Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A, Rolfs A. Wittmann J, et al. Among authors: giese ak. JIMD Rep. 2012;6:117-25. doi: 10.1007/8904_2012_130. Epub 2012 Mar 21. JIMD Rep. 2012. PMID: 23430949 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: giese ak. PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013. PLoS One. 2013. PMID: 24278166 Free PMC article.
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. Among authors: giese ak. 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.
80 results