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	1.	Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. [electronic resource] by Kostalova, Eva Pavelka, Karel Vlaskova, Hana Musalkova, Dita Stiburkova, Blanka Producer: 20151005 In: Clinica chimica acta; international journal of clinical chemistry vol. 440 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. [electronic resource] by Elleder, Milan Dvoráková, Lenka Stolnaja, Larisa Vlásková, Hana Hůlková, Helena Druga, Rastislav Poupetová, Helena Kostálová, Eva Mikulástík, Josef Producer: 20081014 In: Acta neuropathologica vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease. [electronic resource] by Jahnová, Helena Poupětová, Helena Jirečková, Jitka Vlášková, Hana Košťálová, Eva Mazanec, Radim Zumrová, Alena Mečíř, Petr Mušová, Zuzana Magner, Martin Producer: 20200109 In: Journal of neurology vol. 266 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)