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Page 1
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Among authors: lykopoulou l. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Kiritsi D, et al. Among authors: lykopoulou l. J Allergy Clin Immunol. 2015 Jan;135(1):280-3. doi: 10.1016/j.jaci.2014.09.042. Epub 2014 Nov 11. J Allergy Clin Immunol. 2015. PMID: 25458912 No abstract available.
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
Valari M, Theodoraki M, Loukas I, Gkantseva-Patsoura S, Karavana G, Falaina V, Lykopoulou L, Pons R, Athanasiou I, Wertheim-Tysarowska K, Kanaka-Gantenbein C, Kiritsi D. Valari M, et al. Among authors: lykopoulou l. Acta Derm Venereol. 2019 Dec 1;99(13):1309-1310. doi: 10.2340/00015555-3317. Acta Derm Venereol. 2019. PMID: 31513275 Free article. Review. No abstract available.
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S. Pisciotta L, et al. Among authors: lykopoulou l. Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26. Atherosclerosis. 2017. PMID: 28881270
Diagnostic accuracy of two-dimensional shear wave elastography in detecting hepatic fibrosis in children with autoimmune hepatitis, biliary atresia and other chronic liver diseases.
Galina P, Alexopoulou E, Mentessidou A, Mirilas P, Zellos A, Lykopoulou L, Patereli A, Salpasaranis K, Kelekis NL, Zarifi M. Galina P, et al. Among authors: lykopoulou l. Pediatr Radiol. 2021 Jul;51(8):1358-1368. doi: 10.1007/s00247-020-04959-9. Epub 2021 Mar 23. Pediatr Radiol. 2021. PMID: 33755748
Flow-cytometric analysis of reticulocytes in normal cord blood.
Paterakis GS, Lykopoulou L, Papassotiriou J, Stamulakatou A, Kattamis C, Loukopoulos D. Paterakis GS, et al. Among authors: lykopoulou l. Acta Haematol. 1993;90(4):182-5. doi: 10.1159/000204454. Acta Haematol. 1993. PMID: 8140857
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