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	1.	Adenylosuccinate lyase deficiency. [electronic resource] by Jurecka, Agnieszka Zikanova, Marie Kmoch, Stanislav Tylki-Szymańska, Anna Producer: 20160303 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. [electronic resource] by Jurecka, Agnieszka Zikanova, Marie Jurkiewicz, Elżbieta Tylki-Szymańska, Anna Producer: 20140911 In: Neuropediatrics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	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)
	4.	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)
	5.	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)
	6.	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)
	7.	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)
	8.	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)
	9.	The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation. [electronic resource] by Mazzarino, Randall C Baresova, Veronika Zikánová, Marie Duval, Nathan Wilkinson, Terry G Patterson, David Vacano, Guido N Publication details: Molecular genetics and metabolism reports Dec 2019 In: Molecular genetics and metabolism reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	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)
	12.	Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. [electronic resource] by Jurecka, Agnieszka Zikanova, Marie Tylki-Szymanska, Anna Krijt, Jakub Bogdanska, Anna Gradowska, Wanda Mullerova, Karolina Sykut-Cegielska, Jolanta Kmoch, Stanislav Pronicka, Ewa Producer: 20080814 In: Molecular genetics and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	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)
	14.	Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. [electronic resource] by Mouchegh, Katharina Zikánová, Marie Hoffmann, Georg F Kretzschmar, Benno Kühn, Thomas Mildenberger, Eva Stoltenburg-Didinger, Gisela Krijt, Jakub Dvoráková, Lenka Honzík, Tomás Zeman, Jiri Kmoch, Stanislav Rossi, Rainer Producer: 20070125 In: The Journal of pediatrics vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	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)
	16.	Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. [electronic resource] by Stibůrková, Blanka Majewski, Jacek Hodanová, Katerina Ondrová, Lenka Jerábková, Markéta Zikánová, Marie Vylet'al, Petr Sebesta, Ivan Marinaki, Anthony Simmonds, Anne Matthijs, Gert Fryns, Jean-Pierre Torres, Rosa Puig, Juan García Ott, Jurg Kmoch, Stanislav Producer: 20030916 In: European journal of human genetics : EJHG vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	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)
	18.	Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer. [electronic resource] by Zurlo, Giada Liu, Xijuan Takada, Mamoru Fan, Cheng Simon, Jeremy M Ptacek, Travis S Rodriguez, Javier von Kriegsheim, Alex Liu, Juan Locasale, Jason W Robinson, Adam Zhang, Jing Holler, Jessica M Kim, Baek Zikánová, Marie Bierau, Jörgen Xie, Ling Chen, Xian Li, Mingjie Perou, Charles M Zhang, Qing Producer: 20200310 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)