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Evangelia Dimitriou

Boston Children's Hospital

33

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415

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

2020 Molecular genetics and metabolism reports
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Citations (2)
α-Synuclein dimerization in erythrocytes of Gaucher disease patients: correlation with lipid abnormalities and oxidative stress.

2016 Neuroscience Letters
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Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress

2014 Blood Cells Molecules and Diseases
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Citations (13)
Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

2014 Clinical Genetics
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Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells.

2013 PLOS ONE
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Citations (35)
Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case.

2010 Blood Cells Molecules and Diseases
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Citations (5)
Chitotriosidase plasma activity in nephropathic cystinosis.

2009 Journal of Inherited Metabolic Disease
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Citations (6)
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.

2009 Clinica Chimica Acta
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Citations (9)
Plasmalogen levels in Gaucher disease

2008 Blood Cells Molecules and Diseases
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Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

2008 Human Mutation
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Citations (15)