Fol. Biol. 2019, 65, 152-157
https://doi.org/10.14712/fb2019065030152
Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment
Crossref Cited-by Linking
- Cremonesi Alessio, Meili David, Rassi Anahita, Poms Martin, Tavazzi Barbara, Škopová Václava, Häberle Johannes, Zikánová Marie, Hersberger Martin: Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application. Clinical Chemistry and Laboratory Medicine (CCLM) 2023, 61, 1792. <https://doi.org/10.1515/cclm-2022-1236>
- Pastor-Anglada Marçal, Mata-Ventosa Aida, Pérez-Torras Sandra: Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29). IJMS 2022, 23, 8770. <https://doi.org/10.3390/ijms23158770>
- Souckova Olga, Skopova Vaclava, Baresova Veronika, Sedlak David, Bleyer Anthony J., Kmoch Stanislav, Zikanova Marie: Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds. Metabolites 2022, 12, 1210. <https://doi.org/10.3390/metabo12121210>
- Ivanovová Eliška, Piskláková Barbora, Dobešová Dana, Kvasnička Aleš, Friedecký David: Novel LC-MS tools for diagnosing inborn errors of metabolism. Microchemical Journal 2021, 170, 106654. <https://doi.org/10.1016/j.microc.2021.106654>
- Pelet Anna, Skopova Vaclava, Steuerwald Ulrike, Baresova Veronika, Zarhrate Mohammed, Plaza Jean-Marc, Hnizda Ales, Krijt Matyas, Souckova Olga, Wibrand Flemming, Andorsdóttir Guðrið, Joensen Fróði, Sedlak David, Bleyer Anthony J, Kmoch Stanislav, Lyonnet Stanislas, Zikanova Marie: PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. Human Molecular Genetics 2019, 28, 3805. <https://doi.org/10.1093/hmg/ddz237>
