Concepedia

Irene Mavridou

IM

Statistics

Publications

14

Citations

309

H-Index

11

Active since

1992

Affiliations

Institute of Child Health(Current)

Universitat de Barcelona

National and Kapodistrian University of Athens

Centre for Biomedical Network Research on Rare Diseases

Laboratoire de Synthèse Organique

Irene Mavridou is an author at Institute of Child Health specializing in life sciences, enzyme deficiencies, and medical genetics.

Publications per year

1992–2020

14

Publications

14

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis et al. · Human Mutation · 2012 · 75 citations

, , +17

Subunit composition of the untransformed glucocorticoid receptor in the cytosol and in the cell

Μichael N. Alexis, Irene Mavridou, Dimitra J. Mitsiou · European Journal of Biochemistry · 1992 · 38 citations · Full text

, , +15

Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease

Eugénie Laigre, Damien Hazelard, Josefina Casas et al. · Carbohydrate Research · 2016 · 26 citations

, , +7

Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies

Helen Michelakakis, Evangelia Dimitriou, Sonja van Weely et al. · Journal of Inherited Metabolic Disease · 1994 · 25 citations

, , +16

Danon disease: Further clinical and molecular heterogeneity

Frédérique Sabourdy, Helen Michelakakis, Aris Anastasakis et al. · Muscle & Nerve · 2009 · 19 citations

, , +10

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