These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
13. A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. Zandberg L; van Dyk HC; van der Westhuizen FH; van Dijk AA Int J Biochem Cell Biol; 2016 Sep; 78():116-129. PubMed ID: 27417235 [TBL] [Abstract][Full Text] [Related]
14. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. Uematsu M; Sakamoto O; Sugawara N; Kumagai N; Morimoto T; Yamaguchi S; Hasegawa Y; Kobayashi H; Ihara K; Yoshino M; Watanabe Y; Inokuchi T; Yokoyama T; Kiwaki K; Nakamura K; Endo F; Tsuchiya S; Ohura T J Hum Genet; 2007; 52(12):1040-1043. PubMed ID: 17968484 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Fukao T; Horikawa R; Naiki Y; Tanaka T; Takayanagi M; Yamaguchi S; Kondo N Mol Genet Metab; 2010 Aug; 100(4):339-44. PubMed ID: 20488739 [TBL] [Abstract][Full Text] [Related]
17. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837 [TBL] [Abstract][Full Text] [Related]
18. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Friebel D; von der Hagen M; Baumgartner ER; Fowler B; Hahn G; Feyh P; Heubner G; Baumgartner MR; Hoffmann GF Neuropediatrics; 2006 Apr; 37(2):72-8. PubMed ID: 16773504 [TBL] [Abstract][Full Text] [Related]
19. Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. Rodríguez JM; Ruíz-Sala P; Ugarte M; Peñalva MA J Biol Chem; 2004 Feb; 279(6):4578-87. PubMed ID: 14612443 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]