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194 related items for PubMed ID: 23053474

  • 1. Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
    Gallego-Villar L, Pérez-Cerdá C, Pérez B, Abia D, Ugarte M, Richard E, Desviat LR.
    J Inherit Metab Dis; 2013 Sep; 36(5):731-40. PubMed ID: 23053474
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  • 13. Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
    Jiang L, Park JS, Yin L, Laureano R, Jacquinet E, Yang J, Liang S, Frassetto A, Zhuo J, Yan X, Zhu X, Fortucci S, Hoar K, Mihai C, Tunkey C, Presnyak V, Benenato KE, Lukacs CM, Martini PGV, Guey LT.
    Nat Commun; 2020 Oct 21; 11(1):5339. PubMed ID: 33087718
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  • 14. Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
    Li Y, Wang M, Huang Z, Ye J, Wang Y.
    BMC Med Genomics; 2022 Mar 16; 15(1):59. PubMed ID: 35296328
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  • 17. Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.
    Liu Y, Chen Z, Dong H, Ding Y, He R, Kang L, Li D, Shen M, Jin Y, Zhang Y, Song J, Tian Y, Cao Y, Liang D, Yang Y.
    Orphanet J Rare Dis; 2022 Mar 24; 17(1):135. PubMed ID: 35331292
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  • 18. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
    Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A.
    Mol Genet Metab; 2016 Mar 24; 117(3):355-362. PubMed ID: 26740382
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  • 19. Propionyl-CoA carboxylase - A review.
    Wongkittichote P, Ah Mew N, Chapman KA.
    Mol Genet Metab; 2017 Dec 24; 122(4):145-152. PubMed ID: 29033250
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  • 20. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
    Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT.
    Biochem Genet; 2014 Oct 24; 52(9-10):415-29. PubMed ID: 24863100
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