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Items: 1 to 20 of 101

1.

Mutation analysis in 54 propionic acidemia patients.

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO.

J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27.

PMID:
22033733
2.

[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;46(6):416-20. Chinese.

PMID:
19099776
3.

[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;32(1):26-30. doi: 10.3760/cma.j.issn.1003-9406.2015.01.006. Chinese.

PMID:
25636094
4.

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. doi: 10.1007/s10528-014-9657-6. Epub 2014 May 27.

PMID:
24863100
5.

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;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26.

PMID:
27227689
6.

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.

Mol Genet Metab. 2003 Jan;78(1):59-67.

PMID:
12559849
7.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.

Hum Mutat. 1999;14(4):275-82. Review.

PMID:
10502773
8.

Propionic acidemia in the Arab World.

Zayed H.

Gene. 2015 Jun 15;564(2):119-24. doi: 10.1016/j.gene.2015.04.019. Epub 2015 Apr 9. Review.

PMID:
25865301
9.

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15.

PMID:
20549364
10.

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP.

Hum Mutat. 2002 Jun;19(6):629-40.

PMID:
12007220
11.

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.

Am J Hum Genet. 1998 Aug;63(2):360-9.

12.

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M.

Hum Mutat. 1999;14(1):89-90.

PMID:
10447268
13.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.

Am J Hum Genet. 2007 Dec;81(6):1262-70.

14.

Mutations participating in interallelic complementation in propionic acidemia.

Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I.

Am J Hum Genet. 1994 Jul;55(1):51-8.

15.

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;81(4):335-42.

PMID:
15059621
16.

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review.

PMID:
15464417
17.

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

Jiang H, Rao KS, Yee VC, Kraus JP.

J Biol Chem. 2005 Jul 29;280(30):27719-27. Epub 2005 May 12.

18.

Molecular analysis of PCCB gene in Korean patients with propionic acidemia.

Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH.

Mol Genet Metab. 2002 Nov;77(3):209-16. Erratum in: Mol Genet Metab. 2003 Mar;78(3):236-7.

PMID:
12409268
19.

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.

Hum Genet. 1997 Nov;101(1):93-6.

PMID:
9385377
20.

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

Campeau E, Dupuis L, León-Del-Rio A, Gravel R.

Mol Genet Metab. 1999 May;67(1):11-22.

PMID:
10329019

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