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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Mercimek-Mahmutoglu S, et al. Among authors: kyriakopoulou l. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. Orphanet J Rare Dis. 2015. PMID: 25758715 Free PMC article.
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice.
Ballantyne LL, Sin YY, St Amand T, Si J, Goossens S, Haenebalcke L, Haigh JJ, Kyriakopoulou L, Schulze A, Funk CD. Ballantyne LL, et al. Among authors: kyriakopoulou l. PLoS One. 2015 May 4;10(5):e0125967. doi: 10.1371/journal.pone.0125967. eCollection 2015. PLoS One. 2015. PMID: 25938595 Free PMC article.
The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.
Eckford PDW, McCormack J, Munsie L, He G, Stanojevic S, Pereira SL, Ho K, Avolio J, Bartlett C, Yang JY, Wong AP, Wellhauser L, Huan LJ, Jiang JX, Ouyang H, Du K, Klingel M, Kyriakopoulou L, Gonska T, Moraes TJ, Strug LJ, Rossant J, Ratjen F, Bear CE. Eckford PDW, et al. Among authors: kyriakopoulou l. J Cyst Fibros. 2019 Jan;18(1):35-43. doi: 10.1016/j.jcf.2018.03.013. Epub 2018 Oct 10. J Cyst Fibros. 2019. PMID: 29685812 Free article. Review.
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. Schulze A, et al. Among authors: kyriakopoulou l. Pediatrics. 2016 Jan;137(1). doi: 10.1542/peds.2015-2672. Epub 2015 Dec 18. Pediatrics. 2016. PMID: 26684475
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P. Mørkrid L, et al. Among authors: kyriakopoulou l. Clin Chem. 2015 May;61(5):760-8. doi: 10.1373/clinchem.2014.235564. Epub 2015 Mar 10. Clin Chem. 2015. PMID: 25759465 Free article.
31 results