Kyriakopoulou L - Search Results

1

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jilani A, Matviychuk D, Blaser S, Dyack S, Mathieu J, Prasad AN, Prasad C, Kyriakopoulou L, Mercimek-Andrews S. Jilani A, et al. Among authors: kyriakopoulou l. JIMD Rep. 2019 Sep 3;50(1):20-30. doi: 10.1002/jmd2.12057. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741823 Free PMC article.

2

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Among authors: kyriakopoulou l. Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3. Mol Genet Metab. 2017. PMID: 28122681

3

Trio RNA sequencing in a cohort of medically complex children.

Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: kyriakopoulou l. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.

4

Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children.

Colantonio DA, Kyriakopoulou L, Chan MK, Daly CH, Brinc D, Venner AA, Pasic MD, Armbruster D, Adeli K. Colantonio DA, et al. Among authors: kyriakopoulou l. Clin Chem. 2012 May;58(5):854-68. doi: 10.1373/clinchem.2011.177741. Epub 2012 Feb 27. Clin Chem. 2012. PMID: 22371482

5

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

6

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.

7

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. Among authors: kyriakopoulou l. 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.

8

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. Among authors: kyriakopoulou l. 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

9

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

10

Human kallikrein gene 5 (KLK5) expression by quantitative PCR: an independent indicator of poor prognosis in breast cancer.

Yousef GM, Scorilas A, Kyriakopoulou LG, Rendl L, Diamandis M, Ponzone R, Biglia N, Giai M, Roagna R, Sismondi P, Diamandis EP. Yousef GM, et al. Among authors: kyriakopoulou lg. Clin Chem. 2002 Aug;48(8):1241-50. Clin Chem. 2002. PMID: 12142380

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