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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: papadopoulou mt. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.
Papadopoulou MT, Dalpa E, Portokalas M, Katsanika I, Tirothoulaki K, Spilioti M, Gerou S, Plecko B, Evangeliou AE. Papadopoulou MT, et al. JIMD Rep. 2021 Jun 4;60(1):3-9. doi: 10.1002/jmd2.12206. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258135 Free PMC article.
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia.
Papadopoulou MT, Panagopoulou P, Paramera E, Pechlivanis A, Virgiliou C, Papakonstantinou E, Palabougiouki M, Ioannidou M, Vasileiou E, Tragiannidis A, Papakonstantinou E, Theodoridis G, Hatzipantelis E, Evangeliou A. Papadopoulou MT, et al. Diagnostics (Basel). 2024 Mar 24;14(7):682. doi: 10.3390/diagnostics14070682. Diagnostics (Basel). 2024. PMID: 38611595 Free PMC article.
Prognostic significance of major lipids in patients with acute ischemic stroke.
Tziomalos K, Giampatzis V, Bouziana SD, Spanou M, Kostaki S, Papadopoulou M, Angelopoulou SM, Tsopozidi M, Savopoulos C, Hatzitolios AI. Tziomalos K, et al. Metab Brain Dis. 2017 Apr;32(2):395-400. doi: 10.1007/s11011-016-9924-9. Epub 2016 Oct 23. Metab Brain Dis. 2017. PMID: 27771869
49 results