Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
1995 | 1 |
1996 | 1 |
1997 | 1 |
1998 | 1 |
2000 | 1 |
2013 | 1 |
2024 | 0 |
PubMed (cited) for id: 601424
7 results
Results by year
Filters applied: . Clear all
Page 1
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
Hum Mutat. 2013 Mar;34(3):473-80. doi: 10.1002/humu.22258. Epub 2013 Jan 22.
Hum Mutat. 2013.
PMID: 23281106
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N.
Fukao T, et al.
Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282.
Genomics. 2000.
PMID: 10964512
Item in Clipboard
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA.
Song XQ, et al.
Hum Mutat. 1998;12(2):83-8. doi: 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P.
Hum Mutat. 1998.
PMID: 9671268
Item in Clipboard
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP.
Niezen-Koning KE, et al.
Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733.
Eur J Pediatr. 1997.
PMID: 9392403
Review.
Item in Clipboard
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA.
Kassovska-Bratinova S, et al.
Am J Hum Genet. 1996 Sep;59(3):519-28.
Am J Hum Genet. 1996.
PMID: 8751852
Free PMC article.
Item in Clipboard
Medical aspects of ketone body metabolism.
Mitchell GA, Kassovska-Bratinova S, Boukaftane Y, Robert MF, Wang SP, Ashmarina L, Lambert M, Lapierre P, Potier E.
Mitchell GA, et al.
Clin Invest Med. 1995 Jun;18(3):193-216.
Clin Invest Med. 1995.
PMID: 7554586
Review.
Item in Clipboard
A new case of succinyl-CoA: acetoacetate transferase deficiency.
Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, Hernández C, García MJ, Ugarte M.
Pérez-Cerdá C, et al.
J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979.
J Inherit Metab Dis. 1992.
PMID: 1405472
No abstract available.
Item in Clipboard
Cite
Cite