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147 related items for PubMed ID: 33725819

  • 1. Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.
    Chen Y, Lin X, Lin Q, Zeng Y, Qiu X, Liu G, Zhu W.
    Medicine (Baltimore); 2021 Mar 12; 100(10):e24161. PubMed ID: 33725819
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  • 2. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
    Yang Q, Xu H, Luo J, Li M, Yi S, Zhang Q, Geng G, Feng S, Fan X.
    BMC Med Genet; 2020 Apr 06; 21(1):72. PubMed ID: 32252659
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  • 3. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
    Tian Y, Wang G, Shi W, Bai X.
    BMC Pregnancy Childbirth; 2020 Nov 12; 20(1):689. PubMed ID: 33183246
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  • 4. Novel variants of the PCCB gene in Chinese patients with propionic acidemia.
    Yang X, Li D, Tu C, He W, Meng L, Tan YQ, Lu G, Du J, Zhang Q.
    Clin Chim Acta; 2021 Aug 12; 519():18-25. PubMed ID: 33798502
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  • 8. A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
    Wang HR, Liu YQ, He XL, Sun J, Zeng FW, Yan CB, Li H, Gao SY, Yang Y.
    BMC Med Genet; 2020 Aug 20; 21(1):166. PubMed ID: 32819290
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  • 11. [Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].
    Zhang Q, Fan G, Zhang S, Liu Y, Zhang W, Pan Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar 10; 38(3):251-254. PubMed ID: 33751535
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  • 12. 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 10; 52(9-10):415-29. PubMed ID: 24863100
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  • 15. [Phenotypes and genotypes of 78 patients with propionic acidemia].
    Ma X, Liu Y, Chen ZH, Zhang Y, Dong H, Song JQ, Jin Y, Li MQ, Kang LL, He RX, Ding Y, Li DX, Zheng H, Sun LY, Zhu ZJ, Yang YL, Cao Y.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2022 Sep 06; 56(9):1263-1271. PubMed ID: 36207890
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  • 17. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
    Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.
    J Inherit Metab Dis; 2018 Mar 06; 41(2):157-168. PubMed ID: 29159707
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  • 18. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
    Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG.
    Eur J Hum Genet; 2017 Nov 06; 25(11):1195-1201. PubMed ID: 28853722
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