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Creutzfeldt-Jakob disease in Austria: an autopsy-controlled study.
Gelpi E, Heinzl H, Hoftberger R, Unterberger U, Strobel T, Voigtlander T, Drobna E, Jarius C, Lang S, Waldhor T, Bernheimer H, Budka H. Gelpi E, et al. Among authors: bernheimer h. Neuroepidemiology. 2008;30(4):215-21. doi: 10.1159/000126915. Epub 2008 Apr 18. Neuroepidemiology. 2008. PMID: 18424902
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes.
Unterberger U, Regelsberger G, Sundt R, Bernheimer H, Voigtländer T. Unterberger U, et al. Among authors: bernheimer h. Clin Biochem. 2007 Sep;40(13-14):1037-44. doi: 10.1016/j.clinbiochem.2007.04.015. Epub 2007 May 3. Clin Biochem. 2007. PMID: 17524384
Quantification of α-galactosidase activity in intact leukocytes.
Hölzl MA, Gärtner M, Kovarik JJ, Hofer J, Bernheimer H, Sunder-Plassmann G, Zlabinger GJ. Hölzl MA, et al. Among authors: bernheimer h. Clin Chim Acta. 2010 Nov 11;411(21-22):1666-70. doi: 10.1016/j.cca.2010.06.023. Epub 2010 Jun 25. Clin Chim Acta. 2010. PMID: 20599861
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Among authors: bernheimer h. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556
Danon disease: case report and detection of new mutation.
Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H. Regelsberger G, et al. Among authors: bernheimer h. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S115-22. doi: 10.1007/s10545-009-1097-9. Epub 2009 Jul 7. J Inherit Metab Dis. 2009. PMID: 19588270
118 results