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Page 1
Factors Influencing Parental Awareness about Newborn Screening.
Franková V, Dohnalová A, Pešková K, Hermánková R, O'Driscoll R, Ješina P, Kožich V. Franková V, et al. Among authors: jesina p. Int J Neonatal Screen. 2019 Sep 18;5(3):35. doi: 10.3390/ijns5030035. eCollection 2019 Sep. Int J Neonatal Screen. 2019. PMID: 33072994 Free PMC article.
Metabolism of sulfur compounds in homocystinurias.
Kožich V, Ditrói T, Sokolová J, Křížková M, Krijt J, Ješina P, Nagy P. Kožich V, et al. Among authors: jesina p. Br J Pharmacol. 2019 Feb;176(4):594-606. doi: 10.1111/bph.14523. Epub 2018 Nov 25. Br J Pharmacol. 2019. PMID: 30341787 Free PMC article.
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP. Sun S, et al. Among authors: jesina p. Genome Med. 2020 Jan 30;12(1):13. doi: 10.1186/s13073-020-0711-1. Genome Med. 2020. PMID: 32000841 Free PMC article.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V. Svaton M, et al. Among authors: jesina p. Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178. Blood. 2020. PMID: 32276275 Free PMC article. No abstract available.
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T. Rücklová K, et al. Among authors: jesina p. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: jesina p. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. Among authors: jesina p. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
56 results