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Stefanie Kluepfel-Stahl
Stefanie Kluepfel-Stahl
National Institutes of Health
Pharmacological chaperone
Fabry disease
Biology
Chaperone (protein)
Enzyme
3
Papers
82
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Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
2008
Pharmacogenetics and Genomics
Sang H. Shin
Stefanie Kluepfel-Stahl
Adele Cooney
Christine R. Kaneski
Jane M. Quirk
Raphael Schiffmann
Roscoe O. Brady
Gary J. Murray
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Citations (35)
113. Identification of Fabry disease-causing mutations that are responsive to the pharmacological chaperone AT1001
2008
Molecular Genetics and Metabolism
Xiaoyang Wu
Kirsten Mascioli
Evan Katz
Hui-Hwa Chang
Sang-Hoon Shin
Stefanie Kluepfel-Stahl
Gary J. Murray
Raphael Schiffmann
Kenneth J. Valenzano
David J. Lockhart
Elfrida R. Benjamin
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Citations (1)
Screening for pharmacological chaperones in Fabry disease.
2007
Biochemical and Biophysical Research Communications
Sang-Hoon Shin
Gary J. Murray
Stefanie Kluepfel-Stahl
Adele Cooney
Jane M. Quirk
Raphael Schiffmann
Roscoe O. Brady
Christine R. Kaneski
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Citations (46)
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