214 related articles for article (PubMed ID: 10820128)
21. Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.
Lam Hon Wah AM; Lam KF; Tsui F; Robinson B; Saunders ME; Gravel RA
Am J Hum Genet; 1983 Sep; 35(5):889-99. PubMed ID: 6614005
[TBL] [Abstract][Full Text] [Related]
22. [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. PubMed ID: 19099776
[TBL] [Abstract][Full Text] [Related]
23. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Pérez-Cerdá C; Clavero S; Pérez B; Rodríguez-Pombo P; Desviat LR; Ugarte M
Biochim Biophys Acta; 2003 May; 1638(1):43-9. PubMed ID: 12757933
[TBL] [Abstract][Full Text] [Related]
24. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Muro S; Perez-Cerdá C; Roddríguez-Pombo P; Pérez B; Briones P; Ribes A; Ugarte M
J Med Genet; 1999 May; 36(5):412-4. PubMed ID: 10353789
[TBL] [Abstract][Full Text] [Related]
25. Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
Pérez-Cerdá C; Rodríguez-Pombo P; Ugarte M
J Inherit Metab Dis; 1994; 17(6):661-3. PubMed ID: 7707688
[No Abstract] [Full Text] [Related]
26. cDNA cloning, mapping and expression of the mouse propionyl CoA carboxylase beta (pccb), the gene for human type II propionic acidaemia.
Schrick JJ; Lingrel JB
Gene; 2001 Feb; 264(1):147-52. PubMed ID: 11245989
[TBL] [Abstract][Full Text] [Related]
27. Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.
Richard E; Desviat LR; Pérez B; Pérez-Cerdá C; Ugarte M
Biochim Biophys Acta; 1999 Mar; 1453(3):351-8. PubMed ID: 10101253
[TBL] [Abstract][Full Text] [Related]
28. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Desviat LR; Sanchez-Alcudia R; Pérez B; Pérez-Cerdá C; Navarrete R; Vijzelaar R; Ugarte M
Mol Genet Metab; 2009 Apr; 96(4):171-6. PubMed ID: 19157943
[TBL] [Abstract][Full Text] [Related]
29. 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; 41(2):157-168. PubMed ID: 29159707
[TBL] [Abstract][Full Text] [Related]
30. Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
Ohura T; Miyabayashi S; Narisawa K; Tada K
Hum Genet; 1991 May; 87(1):41-4. PubMed ID: 2037281
[TBL] [Abstract][Full Text] [Related]
31. 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; 1740(3):489-98. PubMed ID: 15949719
[TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 12409268
[TBL] [Abstract][Full Text] [Related]
33. 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; 83(1-2):28-37. PubMed ID: 15464417
[TBL] [Abstract][Full Text] [Related]
34. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
Lamhonwah AM; Gravel RA
Am J Hum Genet; 1987 Dec; 41(6):1124-31. PubMed ID: 3687944
[TBL] [Abstract][Full Text] [Related]
35. New splicing mutations in propionic acidemia.
Desviat LR; Clavero S; Perez-Cerdá C; Navarrete R; Ugarte M; Perez B
J Hum Genet; 2006; 51(11):992-997. PubMed ID: 17051315
[TBL] [Abstract][Full Text] [Related]
36. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Al-Hamed MH; Imtiaz F; Al-Hassnan Z; Al-Owain M; Al-Zaidan H; Alamoudi MS; Faqeih E; Alfadhel M; Al-Asmari A; Saleh MM; Almutairi F; Moghrabi N; AlSayed M
Mol Genet Metab Rep; 2019 Mar; 18():22-29. PubMed ID: 30705822
[TBL] [Abstract][Full Text] [Related]
37. 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
[TBL] [Abstract][Full Text] [Related]
38. 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. PubMed ID: 17966092
[TBL] [Abstract][Full Text] [Related]
39. [Propionic acidemia].
Ohura T
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):575-8. PubMed ID: 3270866
[No Abstract] [Full Text] [Related]
40. 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. PubMed ID: 10447268
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
