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24. [Biotin deficiency in the germ-free rat and propionic acidemia]. Cherruau B; Sacquet E; Mangeot M; Demelier JF; Lemonnier A Ann Nutr Metab; 1983; 27(1):48-56. PubMed ID: 6830142 [TBL] [Abstract][Full Text] [Related]
26. Stimulation of propionyl CoA and beta-methylcrotonyl CoA carboxylase activities in human leukocytes and cultured fibroblasts by biotin. Wolf B; Rosenberg LE Pediatr Res; 1979 Nov; 13(11):1275-9. PubMed ID: 514693 [No Abstract] [Full Text] [Related]
27. 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]
28. Localisation of enzymic defect in propionicacidaemia. Gompertz D; Storrs CN; Bau DC; Peters TJ; Hughes EA Lancet; 1970 May; 1(7657):1140-3. PubMed ID: 4192098 [No Abstract] [Full Text] [Related]
29. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. Van Hove JL; Chace DH; Kahler SG; Millington DS J Inherit Metab Dis; 1993; 16(2):361-7. PubMed ID: 8411998 [TBL] [Abstract][Full Text] [Related]
34. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Weyler W; Sweetman L; Maggio DC; Nyhan WL Clin Chim Acta; 1977 May; 76(3):321-8. PubMed ID: 858206 [TBL] [Abstract][Full Text] [Related]
35. 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]
38. 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]
39. Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency. Harris DJ; Yang BI; Wolf B; Snodgrass PJ Pediatrics; 1980 Jan; 65(1):107-10. PubMed ID: 7355003 [TBL] [Abstract][Full Text] [Related]