Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

por Dimitriou, Evangelia, Paschali, Evangelia, Kanariou, Maria, Michelakakis, Helen
Publicado 2019

Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells

por Dermentzaki, Georgia, Dimitriou, Evangelia, Xilouri, Maria, Michelakakis, Helen, Stefanis, Leonidas
Publicado 2013

Correction: Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells

por Dermentzaki, Georgia, Dimitriou, Evangelia, Xilouri, Maria, Michelakakis, Helen, Stefanis, Leonidas
Publicado 2021

Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment

por Kanakis, Menelaos G., Michelakakis, Helen, Petrou, Petros, Koutsandrea, Chrysanthi, Georgalas, Ilias
Publicado 2016

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

por Bountouvi, Evangelia, Papadopoulou, Anna, Vanier, Marie T., Nyktari, Georgia, Kanellakis, Spyridon, Michelakakis, Helen, Dinopoulos, Argyrios
Publicado 2017

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

por Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen
Publicado 2020

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

por Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Publicado 2020

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review

por Karava, Vasiliki, Kondou, Antonia, Dotis, John, Sotiriou, Georgia, Gerou, Spyridon, Michelakakis, Helen, Vargiami, Euthymia, Economou, Marina, Zafeiriou, Dimitrios, Printza, Nikoleta
Publicado 2021

a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy

por Moraitou, Marina, Sotiroudis, Georgios, Papagiannakis, Nikolaos, Ferraz, Maria M. J., Xenakis, Aristotelis, Aerts, Johannes M. F. G., Stefanis, Leonidas, Michelakakis, Helen
Publicado 2023

Galactosialidosis: review and analysis of CTSA gene mutations

por Caciotti, Anna, Catarzi, Serena, Tonin, Rodolfo, Lugli, Licia, Perez, Carmen Rodriguez, Michelakakis, Helen, Mavridou, Irene, Donati, Maria Alice, Guerrini, Renzo, d’Azzo, Alessandra, Morrone, Amelia
Publicado 2013

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

por Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Publicado 2019

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022