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Page 1
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: grafakou o. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
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: grafakou o. 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.
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. Among authors: grafakou o. 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.
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I, Vorgia P, Spilioti M, Mathioudakis L, Raissaki M, Ilia S, Giorgi M, Skoula I, Chinitrakis G, Michaelidou K, Paraskevoulakos E, Grafakou O, Kariniotaki C, Psyllou T, Zafeiris S, Tzardi M, Briassoulis G, Dinopoulos A, Mitsias P, Evangeliou A. Zaganas I, et al. Among authors: grafakou o. Epilepsy Behav Rep. 2021 Aug 27;16:100477. doi: 10.1016/j.ebr.2021.100477. eCollection 2021. Epilepsy Behav Rep. 2021. PMID: 34568804 Free PMC article.
Valproate effect on ketosis in children under ketogenic diet.
Spilioti M, Pavlou E, Gogou M, Katsanika I, Papadopoulou-Alataki E, Grafakou O, Gkampeta A, Dinopoulos A, Evangeliou A. Spilioti M, et al. Among authors: grafakou o. Eur J Paediatr Neurol. 2016 Jul;20(4):555-9. doi: 10.1016/j.ejpn.2016.04.003. Epub 2016 Apr 13. Eur J Paediatr Neurol. 2016. PMID: 27117552 Clinical Trial.
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Lefeber DJ, et al. Among authors: grafakou o. Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576565 Free PMC article.
Can chest X-ray predict pneumonia severity?
Grafakou O, Moustaki M, Tsolia M, Kavazarakis E, Mathioudakis J, Fretzayas A, Nicolaidou P, Karpathios T. Grafakou O, et al. Pediatr Pulmonol. 2004 Dec;38(6):465-9. doi: 10.1002/ppul.20112. Pediatr Pulmonol. 2004. PMID: 15481079
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