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Journal Abstract Search

158 related items for PubMed ID: 12385775

  • 41. 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
    [Abstract] [Full Text] [Related]

  • 42. 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; 52(9-10):415-29. PubMed ID: 24863100
    [Abstract] [Full Text] [Related]

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

  • 44. The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
    Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K.
    Hum Genet; 1993 Oct; 92(4):397-402. PubMed ID: 8225321
    [Abstract] [Full Text] [Related]

  • 45. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
    Rodríguez-Pombo P, Pérez-Cerdá C, Pérez B, Desviat LR, Sánchez-Pulido L, Ugarte M.
    Biochim Biophys Acta; 2005 Jun 10; 1740(3):489-98. PubMed ID: 15949719
    [Abstract] [Full Text] [Related]

  • 46. Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
    McKeon C, Eanes RZ, Fall RR, Tasset DM, Wolf B.
    Clin Chim Acta; 1980 Feb 28; 101(2-3):217-33. PubMed ID: 6766827
    [Abstract] [Full Text] [Related]

  • 47. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
    Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.
    Mol Genet Metab; 2001 Feb 28; 74(1-2):238-47. PubMed ID: 11592820
    [Abstract] [Full Text] [Related]

  • 48.
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  • 49. 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]

  • 50. New splicing mutations in propionic acidemia.
    Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.
    J Hum Genet; 2006 Mar 24; 51(11):992-997. PubMed ID: 17051315
    [Abstract] [Full Text] [Related]

  • 51.
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  • 52. 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 24; 519():18-25. PubMed ID: 33798502
    [Abstract] [Full Text] [Related]

  • 53. [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 24; 32(1):26-30. PubMed ID: 25636094
    [Abstract] [Full Text] [Related]

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

  • 55. Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases.
    Wolf B.
    Biochem Genet; 1979 Aug 15; 17(7-8):709-13. PubMed ID: 540014
    [Abstract] [Full Text] [Related]

  • 56. Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
    Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P.
    Eur J Med Genet; 2008 Aug 15; 51(6):558-65. PubMed ID: 18790721
    [Abstract] [Full Text] [Related]

  • 57. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM, Troxel CE, Schuster S, Gravel RA.
    Genomics; 1990 Oct 15; 8(2):249-54. PubMed ID: 2249848
    [Abstract] [Full Text] [Related]

  • 58. 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]

  • 59. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
    Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA.
    Hum Mol Genet; 2001 Jun 01; 10(12):1299-306. PubMed ID: 11406611
    [Abstract] [Full Text] [Related]

  • 60. 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 Jun 01; 61(3):330-336. PubMed ID: 31916709
    [Abstract] [Full Text] [Related]

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