120 related articles for article (PubMed ID: 10896279)
1. Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Muro S; Pérez B; Rodríguez-Pombo P; Desviat LR; Pérez-Cerdá C; Ugarte M
J Inherit Metab Dis; 2000 Jun; 23(4):300-4. PubMed ID: 10896279
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
Del Valle JA; Merinero B; Garciá MJ; Ugarte M; Omeñaca F; Neustadt G
J Inherit Metab Dis; 1980; 3(3):93. PubMed ID: 6775147
[No Abstract] [Full Text] [Related]
5. [Blood propionic acid with hyperammonemic coma].
Stöckler S; Kastner U; Pokits B; Müller W; Roscher A
Klin Padiatr; 1987; 199(5):348-50. PubMed ID: 3682709
[TBL] [Abstract][Full Text] [Related]
6. Late onset type of propionic acidaemia: case report and biochemical studies.
Merinero B; DelValle JA; Jiménez A; Garcia MJ; Ugarte M; Solaguren R; López O; Condado I
J Inherit Metab Dis; 1981; 4(2):71-2. PubMed ID: 6790853
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. Antenatal diagnosis of propionic acidaemia by methylcitrate determination.
Dhondt JL; Farriaux JP; Amedee Manesme O; Cartigny B; Sweetman L; Duran M
J Inherit Metab Dis; 1981; 4(2):49-50. PubMed ID: 6790842
[No Abstract] [Full Text] [Related]
9. 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. PubMed ID: 12007220
[TBL] [Abstract][Full Text] [Related]
10. An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
Ohura T; Narisawa K; Tada K; Iinuma K
J Inherit Metab Dis; 1999 Jun; 22(5):676-7. PubMed ID: 10399105
[No Abstract] [Full Text] [Related]
11. 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]
12. Propionic acidaemia presenting with pancytopaenia in infancy.
Sweetman L; Nyhan WL; Cravens J; Zomer Y; Plunket DC
J Inherit Metab Dis; 1980; 2(3):65-9. PubMed ID: 6796762
[TBL] [Abstract][Full Text] [Related]
13. Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
Robert MF; Schultz DJ; Wolf B; Cochran WD; Schwartz AL
Arch Dis Child; 1979 Dec; 54(12):962-5. PubMed ID: 533302
[TBL] [Abstract][Full Text] [Related]
14. A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
Thompson GN; Bresson JL; Bonnefont JP; Walter JH; Read MA; Saudubray JM; Leonard JV; Halliday D
J Inherit Metab Dis; 1990; 13(3):349-51. PubMed ID: 2122099
[No Abstract] [Full Text] [Related]
15. [Propionicacidemia. A report on two cases (author's transl)].
Costil J; Debard A; Guilhaume A; Charpentier C; Pousset JL; Brissaud HE
Ann Pediatr (Paris); 1979 May; 26(5):283-8. PubMed ID: 555851
[No Abstract] [Full Text] [Related]
16. Increased excretion of four acetyl-CoA precursors during clinical episode of propionic acidaemia.
Kuhara T; Shinka T; Matsumoto I; Matsuo M
J Inherit Metab Dis; 1982; 5(4):225-6. PubMed ID: 6820445
[TBL] [Abstract][Full Text] [Related]
17. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
Tahara T; Kraus JP; Ohura T; Rosenberg LE; Fenton WA
J Inherit Metab Dis; 1993; 16(2):353-60. PubMed ID: 8411997
[TBL] [Abstract][Full Text] [Related]
18. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Muro S; Pérez B; Desviat LR; Rodríguez-Pombo P; Pérez-Cerdá C; Clavero S; Ugarte M
Mol Genet Metab; 2001 Dec; 74(4):476-83. PubMed ID: 11749052
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 10329019
[TBL] [Abstract][Full Text] [Related]
20. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Pérez-Cerdá C; Merinero B; Martí M; Cabrera JC; Peña L; García MJ; Gangoiti J; Sanz P; Rodríguez-Pombo P; Hoenicka J; Richard E; Muro S; Ugarte M
Eur J Pediatr; 1998 Jan; 157(1):50-2. PubMed ID: 9461363
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]