Search Page
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 |
---|---|
2003 | 1 |
2008 | 1 |
2014 | 1 |
2019 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9.
Eur J Hum Genet. 2019.
PMID: 30626930
Free PMC article.
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.
Pedersen CB, et al.
Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4.
Hum Genet. 2008.
PMID: 18523805
Item in Clipboard
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M.
Bok LA, et al.
Pediatrics. 2003 Nov;112(5):1152-5. doi: 10.1542/peds.112.5.1152.
Pediatrics. 2003.
PMID: 14595061
Item in Clipboard
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J.
Edhager AV, et al.
Mol Genet Metab. 2014 Mar;111(3):360-368. doi: 10.1016/j.ymgme.2014.01.007. Epub 2014 Jan 24.
Mol Genet Metab. 2014.
PMID: 24485985
Item in Clipboard
Cite
Cite