Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 16.

Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R (2017). (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. European journal of medicinal chemistry, 126:160-170.

Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2017). Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of Inherited Metabolic Disease, 40(2):297-306.

Hülsmeier, Andreas J; Tobler, Micha; Burda, Patricie; Hennet, Thierry (2016). Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease. Scientific Reports, 6:33927.

Tarailo-Graovac, Maja; Shyr, Casper; Ross, Colin J; Horvath, Gabriella A; Salvarinova, Ramona; Ye, Xin C; Zhang, Lin-Hua; Bhavsar, Amit P; Lee, Jessica J Y; Drögemöller, Britt I; Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R; Burda, Patricie; Connolly, Mary B; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A Mark; Friedman, Jan M; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; et al (2016). Exome sequencing and the management of neurometabolic disorders. New England Journal of Medicine, 374(23):2246-2255.

Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R (2016). Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect. Journal of Biological Chemistry, 291(39):20563-20573.

Froese, D Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Guéant, Jean-Louis; Landolt, Markus A; Kožich, Viktor; Fowler, Brian; Baumgartner, Matthias R (2016). Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Human Mutation, 37(5):427-438.

Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; et al (2016). Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Journal of Inherited Metabolic Disease, 39(1):115-124.

Burda, Patricie; Hochuli, Michel (2015). Hepatic glycogen storage disorders: what have we learned in recent years? Current Opinion in Clinical Nutrition and Metabolic Care, 18(4):415-421.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

Palhais, Bruno; Præstegaard, Veronica S; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kožich, Viktor; Andresen, Brage Storstein (2015). Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Research, 43(9):4627-4639.

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):596-602.

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, 9:176.

Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

Stucki, Martin; Coelho, David; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Baumgartner, Matthias R (2012). Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Human Molecular Genetics, 21(6):1410-1418.

Coelho, David; Kim, Jaeseung C; Miousse, Isabelle R; Fung, Stephen; du Moulin, Marcel; Buers, Insa; Suormala, Terttu; Burda, Patricie; Frapolli, Michele; Stucki, Martin; Nürnberg, Peter; Thiele, Holger; Robenek, Horst; Höhne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A; Majewski, Jacek; Rosenblatt, David S; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nature Genetics, 44(10):1152-1155.

This list was generated on Mon Sep 25 14:58:53 2017 CEST.