Zobrazeno 1 - 10
of 284
pro vyhledávání: '"Drousiotou, A"'
Autor:
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical
Externí odkaz:
https://doaj.org/article/433b40107103409f83ac2d77f6e8a618
Autor:
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of
Externí odkaz:
https://doaj.org/article/6bd5436426fd421e948f26520ed12247
Autor:
Georgiou, Theodoros, Petrou, Petros P., Malekkou, Anna, Ioannou, Ioannis, Gavatha, Marina, Skordis, Nicos, Nicolaidou, Paola, Savvidou, Irini, Athanasiou, Emilia, Ourani, Sofia, Papamichael, Elena, Vogazianos, Marios, Dionysiou, Maria, Mavrikiou, Gabriella, Grafakou, Olga, Tanteles, George A., Anastasiadou, Violetta, Drousiotou, Anthi
Publikováno v:
In Molecular Genetics and Metabolism Reports June 2024 39
Autor:
Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)
Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within l
Externí odkaz:
https://doaj.org/article/1393d2d27d9e4b658ab162df0508fc9f
Akademický článek
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Autor:
Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.
Publikováno v:
BMC Medical Genomics; 3/25/2024, Vol. 17 Issue 1, p1-10, 10p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing
Externí odkaz:
https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3
Autor:
Tishkoff, Sarah A., Varkonyi, Robert, Cahinhinan, Nelie, Abbes, Salem, Argyropoulos, George, Destro-Bisol, Giovanni, Drousiotou, Anthi, Dangerfield, Bruce, Lefranc, Gerard, Loiselet, Jacques, Piro, Anna, Stoneking, Mark, Tagarelli, Antonio, Tagarelli, Giuseppe, Touma, Elias H., Williams, Scott M., Clark, Andrew G.
Publikováno v:
Science, 2001 Jul . 293(5529), 455-462.
Externí odkaz:
https://www.jstor.org/stable/3084085
Autor:
Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
Publikováno v:
Human Molecular Genetics. 31:4121-4130
The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype–phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b746f24ea60c92475c8e98970568515
https://doi.org/10.1093/hmg/ddac156
https://doi.org/10.1093/hmg/ddac156