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Burda, Patricie
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1

Clinical and molecular characterization of adult patients w..:

Marelli, Cecilia ; Lavigne, Christian ; Stepien, Karolina M....
Journal of Inherited Metabolic Disease.  44 (2020)  3 - p. 777-786 , 2020
Link: https://doi.org/10.1002/..
 
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2

Severe Distal Motor Involvement in a Non-compliant Adult Wi..:

Van Winckel, Géraldine ; Ballhausen, Diana ; Wolf, Barry...
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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3

Induced Pluripotent Stem Cells to Understand Mucopolysaccha..:

Lito, Silvin ; Sidibe, Adama ; Ilmjarv, Sten...
Cells.  9 (2020)  12 - p. 2593 , 2020
Link: https://doi.org/10.3390/..
 
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4

Is serum biotinidase enzyme activity a potential marker of ..:

Forny, Patrick ; Burda, Patricie ; Bode, Peter.
JIMD Reports.  57 (2020)  1 - p. 58-66 , 2020
Link: https://doi.org/10.1002/..
 
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5

Generation of human induced pluripotent stem cell line UNIG..:

Lito, Silvin ; Burda, Patricie ; Baumgartner, Matthias...
Stem Cell Research.  41 (2019)  - p. 101604 , 2019
Link: https://doi.org/10.1016/..
 
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6

Genetic, structural, and functional analysis of pathogenic ..:

Heuberger, Kathrin ; Bailey, Henry J. ; Burda, Patricie...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1865 (2019)  6 - p. 1265-1272 , 2019
Link: https://doi.org/10.1016/..
 
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7

High‐resolution capillary zone electrophoresis for transfer..:

Tobler, Micha ; Caslavska, Jitka ; Burda, Patricie.
Journal of Separation Science.  41 (2018)  13 - p. 2808-2818 , 2018
Link: https://doi.org/10.1002/..
 
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8

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor o..:

Front, Sophie ; Biela-Banaś, Anna ; Burda, Patricie...
European Journal of Medicinal Chemistry.  126 (2017)  - p. 160-170 , 2017
Link: https://doi.org/10.1016/..
 
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9

Clinical or ATPase domain mutations in ABCD4 disrupt the in..:

Fettelschoss, Victoria ; Burda, Patricie ; Sagné, Corinne...
Journal of Biological Chemistry.  292 (2017)  28 - p. 11980-11991 , 2017
Link: https://doi.org/10.1074/..
 
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10

Analysis of genetic variants of transferrin in human serum ..:

Caslavska, Jitka ; Lanz, Christian ; Burda, Patricie..
Journal of Separation Science.  40 (2017)  11 - p. 2488-2497 , 2017
Link: https://doi.org/10.1002/..
 
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11

Functional characterization of missense mutations in severe..:

Burda, Patricie ; Suormala, Terttu ; Heuberger, Dorothea...
Journal of Inherited Metabolic Disease.  40 (2016)  2 - p. 297-306 , 2016
Link: https://doi.org/10.1007/..
 
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12

Glycosylation site occupancy in health, congenital disorder..:

Hülsmeier, Andreas J. ; Tobler, Micha ; Burda, Patricie.
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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13

Novel Mouse Models of Methylmalonic Aciduria Recapitulate P..:

Forny, Patrick ; Schumann, Anke ; Mustedanagic, Merima...
Journal of Biological Chemistry.  291 (2016)  39 - p. 20563-20573 , 2016
Link: https://doi.org/10.1074/..
 
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14

Splice-shifting oligonucleotide (SSO) mediated blocking of ..:

Palhais, Bruno ; Præstegaard, Veronica S. ; Sabaratnam, Rugivan...
Nucleic Acids Research.  43 (2015)  9 - p. 4627-4639 , 2015
Link: https://doi.org/10.1093/..
 
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15

LC-MS/MS based assay and reference intervals in children an..:

Klinke, Glynis ; Rohrbach, Marianne ; Giugliani, Roberto...
Clinical Biochemistry.  48 (2015)  9 - p. 596-602 , 2015
Link: https://doi.org/10.1016/..
 
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