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Marazza, Alessandro; Galli, Carmela; Fasana, Elisa; Sgrignani, Jacopo; Burda, Patricie; Fassi, Enrico M A; Baumgartner, Matthias; Cavalli, Andrea; Molinari, Maurizio (2020). Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome. DNA and cell biology, 39(2), pp. 226-234. Liebert 10.1089/dna.2019.5221
Tobler, Micha; Caslavsky, Jitka; Burda, Patricie; Thormann, Wolfgang (2018). High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation. Journal of separation science, 41(13), pp. 2808-2818. Wiley-VCH 10.1002/jssc.201800082
Caslavsky, Jitka; Lanz, Christian; Burda, Patricie; Tobler, Micha; Thormann, Wolfgang (2017). Analysis of genetic variants of transferrin in human serum after desialylation by capillary zone electrophoresis and capillary isoelectric focusing. Journal of separation science, 40(11), pp. 2488-2497. Wiley-VCH 10.1002/jssc.201700211
Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007
Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet journal of rare diseases, 9(1), p. 176. BioMed Central 10.1186/s13023-014-0176-7
Imbach, Timo; Burda, Patricie; Kuhnert, Peter; Wevers, Ron A.; Aebi, Markus; Berger, Eric G.; Hennet, Thierry (1999). A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 96(12), pp. 6982-6987. Washington, D.C.: National Academy of Sciences NAS 10.1073/pnas.96.12.6982
