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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Malekkou A, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943857 Free PMC article.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
Inherited metabolic disorders in Cyprus.
Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A. Georgiou T, et al. Among authors: malekkou a. Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694234 Free PMC article.