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of 4
pro vyhledávání: '"Ivana Paučinová"'
Autor:
Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-11 (2017)
Abstract Background Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient
Externí odkaz:
https://doaj.org/article/ae3c13921e404568ac92b8a4b7277930
Publikováno v:
Neurologie pro praxi. 22:525-528
Publikováno v:
Klinicka Onkologie. 32
Background Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by a predisposition to various cancers. Clinicopathological findings of syndrome are very diverse and many symptoms begin to manifest in a certain period of li
Autor:
Jana Konkoľová, Veronika Kramarová, Juraj Kováčik, Daniel Böhmer, Marcel Repiský, Ivana Paučinová, Ján Chandoga
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-11 (2017)
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-11 (2017)
Background Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme a