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	1.	Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. [electronic resource] by Zikanova, Marie Skopova, Vaclava Hnizda, Ales Krijt, Jakub Kmoch, Stanislav Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. [electronic resource] by Zikanova, Marie Krijt, Jakub Skopova, Vaclava Krijt, Matyas Baresova, Veronika Kmoch, Stanislav Producer: 20150908 In: Clinical biochemistry vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. [electronic resource] by Baresova, Veronika Krijt, Matyas Skopova, Vaclava Souckova, Olga Kmoch, Stanislav Zikanova, Marie Producer: 20171120 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies. [electronic resource] by Baresova, Veronika Skopova, Vaclava Souckova, Olga Krijt, Matyas Kmoch, Stanislav Zikanova, Marie Producer: 20190115 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. [electronic resource] by Krijt, Jakub Skopova, Vaclava Adamkova, Vaclava Cermakova, Renata Jurecka, Agnieszka Kmoch, Stanislav Zikanova, Marie Producer: 20140826 In: Clinical biochemistry vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. [electronic resource] by Baresova, Veronika Skopova, Vaclava Sikora, Jakub Patterson, David Sovova, Jana Zikanova, Marie Kmoch, Stanislav Producer: 20121119 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mass spectrometric analysis of purine de novo biosynthesis intermediates. [electronic resource] by Mádrová, Lucie Krijt, Matyáš Barešová, Veronika Václavík, Jan Friedecký, David Dobešová, Dana Součková, Olga Škopová, Václava Adam, Tomáš Zikánová, Marie Producer: 20190507 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders. [electronic resource] by Duval, Nathan Luhrs, Kyleen Wilkinson, Terry G Baresova, Veronika Skopova, Vaclava Kmoch, Stanislav Vacano, Guido N Zikanova, Marie Patterson, David Producer: 20130730 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. [electronic resource] by Vliet, Lydia K Wilkinson, Terry G Duval, Nathan Vacano, Guido Graham, Christine Zikánová, Marie Skopova, Vaclava Baresova, Veronika Hnízda, Aleš Kmoch, Stanislav Patterson, David Producer: 20110425 In: Molecular genetics and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. [electronic resource] by Zikánová, Marie Wahezi, Dawn Hay, Arielle Stiburková, Blanka Pitts, Charles Mušálková, Dita Škopová, Václava Barešová, Veronika Soucková, Olga Hodanová, Katerina Živná, Martina Stránecký, Viktor Hartmannová, Hana Hnízda, Ales Bleyer, Anthony J Kmoch, Stanislav Producer: 20190528 In: Rheumatology (Oxford, England) vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. [electronic resource] by 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 Producer: 20200615 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)