Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Burda Patricie"'
Autor:
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, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 31 (2012)
Abstract Background Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly
Externí odkaz:
https://doaj.org/article/62aed4cdba704719858f8efe906d9006
Autor:
Heuberger, Kathrin, Bailey, Henry J., Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brian, Froese, D. Sean, Yue, Wyatt W., Baumgartner, Matthias R.
Publikováno v:
In BBA - Molecular Basis of Disease 1 June 2019 1865(6):1265-1272
Autor:
Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas **, Gasnier, Bruno, Bornhauser, Beat, Froese, D.Sean, Baumgartner, Matthias R.
Publikováno v:
In Journal of Biological Chemistry 14 July 2017 292(28):11980-11991
Autor:
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.
Publikováno v:
In European Journal of Medicinal Chemistry 27 January 2017 126:160-170
Autor:
Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1999 Jun 01. 96(12), 6982-6987.
Externí odkaz:
https://www.jstor.org/stable/47994
Publikováno v:
The Journal of Cell Biology, 1998 Sep 01. 142(5), 1223-1233.
Externí odkaz:
https://www.jstor.org/stable/1618815
Autor:
Burda, Patricie, Heesen, Stephan Te, Brachat, Arndt, Wach, Achim, Düsterhöft, Andreas, Aebi, Markus
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1996 Jul 01. 93(14), 7160-7165.
Externí odkaz:
https://www.jstor.org/stable/39554
Autor:
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.
Publikováno v:
In Journal of Biological Chemistry September 2016 291(39):20563-20573
Autor:
Klinke, Glynis, Rohrbach, Marianne, Giugliani, Roberto, Burda, Patricie, Baumgartner, Matthias R., Tran, Christel, Gautschi, Matthias, Mathis, Déborah, Hersberger, Martin
Publikováno v:
In Clinical Biochemistry June 2015 48(9):596-602
Autor:
Morscher, Raphael J., Grünert, Sarah Catharina, Bürer, Céline, Burda, Patricie, Suormala, Terttu, Fowler, Brian, Baumgartner, Matthias R.
Publikováno v:
In Molecular Genetics and Metabolism April 2012 105(4):602-606