Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marcel Repiský"'
Autor:
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening
Externí odkaz:
https://doaj.org/article/2208620606eb4afeb4c756b1436fd715
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:
Vnitřní lékařství. 67:e04-e08
Cardiovascular diseases on an atherosclerotic basis are a serious health problem. Atherosclerosis is a multifactorial pathological process with complex pathogenesis. Its origin and development is conditioned by a set of several risk factors. Changes
Publikováno v:
Vnitrni lekarstvi. 67(E-2)
Cardiovascular diseases on an atherosclerotic basis are a serious health problem. Atherosclerosis is a multifactorial pathological process with complex pathogenesis. Its origin and development is conditioned by a set of several risk factors. Changes
Autor:
Miroslava Lysinová, Svetozár Dluholucký, D. Behulova, Ján Chandoga, Petra Jungová, Mária Knapková, Jana Lisyová, Marcel Repiský, Martina Machková, Daniel Böhmer, Ľudmila Potočňáková, Jana Saligová
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening conditio
Autor:
Jana Konkoľová, Robert Petrovic, J Kršiaková, Daniel Böhmer, D Kantarská, H. Zelinková, Marcel Repiský, Stanislav Šutovský, Miriam Kolnikova, Ján Chandoga
Publikováno v:
Gene. 568:61-68
D-bifunctional protein deficiency (#OMIM 261515) is a rare autosomal recessive hereditary metabolic disorder causing severe clinical and biochemical abnormalities that are usually fatal in the course of the first years of life. This disease is classi
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