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176 related items for PubMed ID: 24464666

  • 1. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
    Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.
    World J Pediatr; 2014 Feb; 10(1):64-8. PubMed ID: 24464666
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. [Gene mutation analysis in patients with propionic acidemia].
    Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Jun 06; 46(6):416-20. PubMed ID: 19099776
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
    Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb 12; 32(1):26-30. PubMed ID: 25636094
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Propionyl-CoA carboxylase - A review.
    Wongkittichote P, Ah Mew N, Chapman KA.
    Mol Genet Metab; 2017 Dec 12; 122(4):145-152. PubMed ID: 29033250
    [Abstract] [Full Text] [Related]

  • 9. 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 12; 41(2):157-168. PubMed ID: 29159707
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 16; 519():18-25. PubMed ID: 33798502
    [Abstract] [Full Text] [Related]

  • 12. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
    Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.
    Genet Test Mol Biomarkers; 2016 Jul 16; 20(7):373-82. PubMed ID: 27227689
    [Abstract] [Full Text] [Related]

  • 13. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
    Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR.
    Mol Genet Metab; 2018 Nov 16; 125(3):266-275. PubMed ID: 30274917
    [Abstract] [Full Text] [Related]

  • 14. [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
    [Abstract] [Full Text] [Related]

  • 15. Propionic acidemia in the Arab World.
    Zayed H.
    Gene; 2015 Jun 15; 564(2):119-24. PubMed ID: 25865301
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 52(9-10):415-29. PubMed ID: 24863100
    [Abstract] [Full Text] [Related]

  • 17. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
    Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N.
    Turk J Pediatr; 2019 Oct 15; 61(3):330-336. PubMed ID: 31916709
    [Abstract] [Full Text] [Related]

  • 18. [Clinical, biochemical and molecular findings of propionic acidemia].
    Cammarata-Scalisi F, Yen-Hui C, Tze-Tze L, Da Silva G, Araque D, Callea M, Avendaño A.
    Arch Argent Pediatr; 2019 Jun 01; 117(3):e288-e291. PubMed ID: 31063319
    [Abstract] [Full Text] [Related]

  • 19. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
    Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T.
    Mol Genet Metab; 2004 Apr 01; 81(4):335-42. PubMed ID: 15059621
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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