Irene Mavridou

Athens, ESYE31, Greece

Last Updated: 09/26/2026

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Found 14 publications

Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.

Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.

Journal: Neuromuscular disorders : NMD

Published: May 10, 2020

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Journal: Molecular genetics and metabolism reports

Published: March 17, 2020

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Journal: Molecular genetics and metabolism

Published: July 19, 2019

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Journal: European journal of human genetics : EJHG

Published: June 20, 2018

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Journal: Organic & biomolecular chemistry

Published: September 15, 2017

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Journal: Organic & biomolecular chemistry

Published: April 13, 2017

The Spectrum of Niemann-Pick Type C Disease in Greece.

The Spectrum of Niemann-Pick Type C Disease in Greece.

Journal: JIMD reports

Published: October 12, 2016

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

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

Journal: Carbohydrate research

Published: December 15, 2015

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Journal: JIMD reports

Published: March 10, 2015

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Journal: The international journal of biochemistry & cell biology

Published: March 11, 2014

Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.

Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.

Journal: ChemMedChem

Published: February 11, 2014

Galactosialidosis: review and analysis of CTSA gene mutations.

Galactosialidosis: review and analysis of CTSA gene mutations.

Journal: Orphanet journal of rare diseases

Published: May 02, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026