Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

ανά Forny, Patrick, Burda, Patricie, Bode, Peter, Rohrbach, Marianne
Τόπος έκδοσης JIMD Rep (2020)

Degradation of Misfolded Endoplasmic Reticulum Glycoproteins in Saccharomyces cerevisiae Is Determined by a Specific Oligosaccharide Structure

ανά Jakob, Claude A., Burda, Patricie, Roth, Jürgen, Aebi, Markus
Έκδοση 1998

Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease

ανά Hülsmeier, Andreas J., Tobler, Micha, Burda, Patricie, Hennet, Thierry
Τόπος έκδοσης Sci Rep (2016)

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

ανά Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
Τόπος έκδοσης Orphanet J Rare Dis (2014)

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

ανά Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Έκδοση 1999

Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors

ανά Lito, Silvin, Sidibe, Adama, Ilmjarv, Sten, Burda, Patricie, Baumgartner, Matthias, Wehrle-Haller, Bernhard, Krause, Karl-Heinz, Marteyn, Antoine
Τόπος έκδοσης Cells (2020)

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

ανά Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel
Τόπος έκδοσης Front Neurol (2020)

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

ανά 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.
Τόπος έκδοσης Biochim Biophys Acta Mol Basis Dis (2019)

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

ανά Imbach, Timo, Schenk, Barbara, Schollen, Els, Burda, Patricie, Stutz, Andreas, Grünewald, Stephanie, Bailie, Nicola M., King, Mary D., Jaeken, Jaak, Matthijs, Gert, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Έκδοση 2000

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1

ανά 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.
Τόπος έκδοσης J Biol Chem (2017)

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 enzy...

ανά 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
Τόπος έκδοσης Nucleic Acids Res (2015)

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

ανά 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
Έκδοση 2012-05-01

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

ανά 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
Έκδοση 2012

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

ανά 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.
Τόπος έκδοσης J Biol Chem (2016)

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

ανά Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick, Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew, Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rosella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian, Sperl, Wolfgang, Spiekerkötter, Ute, Steinmann, Beat, Tadeucci, Grazia, Trejo, Jose, Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian
Τόπος έκδοσης J Inherit Metab Dis (2016)