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46. 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]
47. Liver transplantation in two cases of propionic acidaemia. Schlenzig JS; Poggi-Travert F; Laurent J; Rabier D; Jan D; Wendel U; Sewell AC; Revillon Y; Kamoun P; Saudubray JM J Inherit Metab Dis; 1995; 18(4):448-61. PubMed ID: 7494403 [TBL] [Abstract][Full Text] [Related]
48. [Effects of propionic acid metabolic precursors in biotin-deprived rats]. Cherruau B; Mangeot M; Demelier JF; Charpentier C; Pelletier C; Lemonnier A Nutr Metab; 1980; 24(6):367-82. PubMed ID: 7219898 [TBL] [Abstract][Full Text] [Related]
49. 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]
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51. Unusual presentations of propionic acidemia. Ozand PT; Rashed M; Gascon GG; Youssef NG; Harfi H; Rahbeeni Z; al Garawi S; al Aqeel A Brain Dev; 1994 Nov; 16 Suppl():46-57. PubMed ID: 7726381 [TBL] [Abstract][Full Text] [Related]
53. 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]
55. 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]
56. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. Lamhonwah AM; Leclerc D; Loyer M; Clarizio R; Gravel RA Genomics; 1994 Feb; 19(3):500-5. PubMed ID: 8188292 [TBL] [Abstract][Full Text] [Related]
57. A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Yano S; Sweetman L; Thorburn DR; Mofidi S; Williams JC Eur J Pediatr; 1997 May; 156(5):382-3. PubMed ID: 9177981 [TBL] [Abstract][Full Text] [Related]
58. Cell genetic studies on propionyl-CoA carboxylase deficient cell lines. Van Leeuwen GH; De Vrieze G; Gimpel JA; Huisjes HJ; Hommes FA J Inherit Metab Dis; 1982; 5(2):115-20. PubMed ID: 6820421 [TBL] [Abstract][Full Text] [Related]
59. The dietary challenge of propionicacidaemia in an Asian girl. Laing SC Hum Nutr Appl Nutr; 1985 Aug; 39(4):273-6. PubMed ID: 3930435 [TBL] [Abstract][Full Text] [Related]
60. 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] [Previous] [Next] [New Search]