Výsledky vyhledávání - "Maša Vidmar Golja"

Akademický článek

A Common Polymorphism in the MTHFD1 Gene Is a Modulator of Risk of Congenital Heart Disease

Autor: Nataša Karas Kuželički, Alenka Šmid, Maša Vidmar Golja, Tina Kek, Borut Geršak, Uroš Mazič, Irena Mlinarič-Raščan, Ksenija Geršak

Publikováno v: Journal of Cardiovascular Development and Disease, Vol 9, Iss 6, p 166 (2022)

Several environmental and genetic factors may influence the risk of congenital heart defects (CHDs), which can have a substantial impact on pediatric morbidity and mortality. We investigated the association of polymorphisms in the genes of the folate

Externí odkaz: https://doaj.org/article/6686a530675243f58c6273fc9ca2de40

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Folate Insufficiency Due to MTHFR Deficiency Is Bypassed by 5-Methyltetrahydrofolate

Autor: Irena Mlinarič-Raščan, Maša Vidmar Golja, Alenka Šmid, Ksenija Gersak, Jurij Trontelj, Nataša Karas Kuželički

Publikováno v: Journal of Clinical Medicine; Volume 9; Issue 9; Pages: 2836
Journal of clinical medicine, str. 1-18, Vol. 9, iss. 9, 2020 : Graf. prikazi
COBISS-ID: 5405759
Journal of Clinical Medicine
Journal of clinical medicine, vol. 9, no. 9, 2836, 2020.
Journal of Clinical Medicine, Vol 9, Iss 2836, p 2836 (2020)

Adequate levels of folates are essential for homeostasis of the organism, prevention of congenital malformations, and the salvage of predisposed disease states. They depend on genetic predisposition, and therefore, a pharmacogenetic approach to indiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff23380fcb7297b5bf43d1c1e699eb80

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Simultaneous quantification of intracellular concentrations of clinically important metabolites of folate-homocysteine cycle by LC-MS/MS

Autor: Irena Mlinarič-Raščan, Alenka Šmid, Maša Vidmar Golja, Jurij Trontelj, Ksenija Gersak

Publikováno v: Analytical biochemistry, vol. 605, 113830, 2020.
Analytical biochemistry, str. 1-12 : Ilustr., Vol. 605, 2020
COBISS-ID: 6506759

Inadequate folate status is detrimental to human development. Deficiency has been implicated in congenital birth defects and cancer, whereas excess has been linked to various negative neurocognitive development outcomes. We developed a method for tra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fe27b83f7f0eec1633ebb20a5143cf
https://pubmed.ncbi.nlm.nih.gov/32717185

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