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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E, Szymańska S, Truszkowska G, Ciara E, Pronicki M, Shin YS, Podskarbi T, Kępka A, Śpiewak M, Płoski R, Bilińska ZT, Rokicki D. Szymańska E, et al. Among authors: ploski r. Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19. Arch Med Sci. 2018. PMID: 29379554 Free PMC article. No abstract available.
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R. Saj M, et al. Among authors: ploski r. BMC Med Genet. 2013 May 23;14:55. doi: 10.1186/1471-2350-14-55. BMC Med Genet. 2013. PMID: 23702046 Free PMC article.
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: ploski r. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229
475 results