173 related articles for article (PubMed ID: 12873194)
21. Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Campeau E; Dupuis L; Leclerc D; Gravel RA
Hum Mol Genet; 1999 Jan; 8(1):107-13. PubMed ID: 9887338
[TBL] [Abstract][Full Text] [Related]
22. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Yorifuji T; Kawai M; Muroi J; Mamada M; Kurokawa K; Shigematsu Y; Hirano S; Sakura N; Yoshida I; Kuhara T; Endo F; Mitsubuchi H; Nakahata T
Hum Genet; 2002 Aug; 111(2):161-5. PubMed ID: 12189489
[TBL] [Abstract][Full Text] [Related]
23. Prenatal diagnosis of propionic acidemia.
Pérez-Cerdá C; Pérez B; Merinero B; Desviat LR; Rodríguez-Pombo P; Ugarte M
Prenat Diagn; 2004 Dec; 24(12):962-4. PubMed ID: 15614906
[TBL] [Abstract][Full Text] [Related]
24. Propionic acidemia--biochemical studies.
Barash V; Elpeleg O; Amit R; Gottfried S; Yatziv S; Gutman A
Isr J Med Sci; 1989 Feb; 25(2):103-6. PubMed ID: 2495260
[TBL] [Abstract][Full Text] [Related]
25. [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]
26. Living-related liver transplantation for neonatal-onset propionic acidemia.
Yorifuji T; Muroi J; Uematsu A; Nakahata T; Egawa H; Tanaka K
J Pediatr; 2000 Oct; 137(4):572-4. PubMed ID: 11035841
[TBL] [Abstract][Full Text] [Related]
27. [Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
Brosch S; Rauffeisen A; Baur M; Michels L; Trefz FK; Pfister M
HNO; 2008 Jan; 56(1):37-42. PubMed ID: 17415538
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 9683601
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. [Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry].
Cifuentes Y; De la Hoz I; Bermúdez M; Arteaga C
Biomedica; 2008 Mar; 28(1):10-7. PubMed ID: 18645657
[TBL] [Abstract][Full Text] [Related]
31. Neurologic outcome of propionic acidemia.
Surtees RA; Matthews EE; Leonard JV
Pediatr Neurol; 1992; 8(5):333-7. PubMed ID: 1418175
[TBL] [Abstract][Full Text] [Related]
32. Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Libert R; Van Hoof F; Thillaye M; Vincent MF; Nassogne MC; de Hoffmann E; Schanck A
Clin Chim Acta; 2000 May; 295(1-2):87-96. PubMed ID: 10767396
[TBL] [Abstract][Full Text] [Related]
33. 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. PubMed ID: 9385377
[TBL] [Abstract][Full Text] [Related]
34. 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; 8(2):249-54. PubMed ID: 2249848
[TBL] [Abstract][Full Text] [Related]
35. A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia.
Kott-Blumenkranz R; Pappas CT; Bensch KG
Hum Pathol; 1981 Dec; 12(12):1141-8. PubMed ID: 7333577
[No Abstract] [Full Text] [Related]
36. 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; 51(6):558-65. PubMed ID: 18790721
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Bergstrøm T; Greter J; Levin AH; Steen G; Tryding N; Wass U
Scand J Clin Lab Invest; 1981 Apr; 41(2):117-26. PubMed ID: 7313494
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.
Rodriguez LI; Tainsh EJ; Varga E; Mavarez AC
J Investig Med High Impact Case Rep; 2021; 9():23247096211015025. PubMed ID: 33978500
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
