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24 results
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Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, Hyland K, Struys EA, Kyriakopoulou L, Mamak E. Mercimek-Mahmutoglu S, et al. Among authors: Kyriakopoulou L. Eur J Paediatr Neurol. 2014 Nov;18(6):741-6. doi: 10.1016/j.ejpn.2014.07.001. Epub 2014 Jul 27. Eur J Paediatr Neurol. 2014. PMID: 25127453
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.
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.
Mercimek-Mahmutoglu S, Corderio D, Nagy L, Mutch C, Carter M, Struys E, Kyriakopoulou L. Mercimek-Mahmutoglu S, et al. Mol Genet Metab Rep. 2014 Apr 1;1:124-128. doi: 10.1016/j.ymgmr.2014.02.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896080 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 Free article. Clinical Trial.
Complex biological pattern of fertility hormones in children and adolescents: a study of healthy children from the CALIPER cohort and establishment of pediatric reference intervals.
Konforte D, Shea JL, Kyriakopoulou L, Colantonio D, Cohen AH, Shaw J, Bailey D, Chan MK, Armbruster D, Adeli K. Konforte D, et al. Clin Chem. 2013 Aug;59(8):1215-27. doi: 10.1373/clinchem.2013.204123. Epub 2013 May 1. Clin Chem. 2013. PMID: 23637248
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism.
Sin YY, Ballantyne LL, Mukherjee K, St Amand T, Kyriakopoulou L, Schulze A, Funk CD. Sin YY, et al. PLoS One. 2013 Nov 4;8(11):e80001. doi: 10.1371/journal.pone.0080001. eCollection 2013. PLoS One. 2013. PMID: 24224027 Free PMC article.
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Tran C, Yazdanpanah M, Kyriakopoulou L, Levandovskiy V, Zahid H, Naufer A, Isbrandt D, Schulze A. Tran C, et al. Clin Chim Acta. 2014 Sep 25;436:160-8. doi: 10.1016/j.cca.2014.05.007. Epub 2014 May 28. Clin Chim Acta. 2014. PMID: 24877651
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.
Teodoro-Morrison T, Kyriakopoulou L, Chen YK, Raizman JE, Bevilacqua V, Chan MK, Wan B, Yazdanpanah M, Schulze A, Adeli K. Teodoro-Morrison T, et al. Among authors: Kyriakopoulou L. Clin Biochem. 2015 Sep;48(13-14):828-36. doi: 10.1016/j.clinbiochem.2015.05.005. Epub 2015 May 12. Clin Biochem. 2015. PMID: 25977068
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