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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 2 |
2005 | 1 |
2007 | 1 |
2010 | 2 |
2014 | 1 |
2024 | 0 |
Search Results
7 results
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Page 1
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29.
J Pediatr. 2014.
PMID: 24880889
Free PMC article.
Clinical Trial.
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M.
Ah Mew N, et al.
Pediatrics. 2010 Jul;126(1):e208-14. doi: 10.1542/peds.2010-0008. Epub 2010 Jun 21.
Pediatrics. 2010.
PMID: 20566609
Free PMC article.
Clinical Trial.
Item in Clipboard
N-acetylglutamate synthase: structure, function and defects.
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M.
Caldovic L, et al.
Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26.
Mol Genet Metab. 2010.
PMID: 20303810
Free PMC article.
Review.
Item in Clipboard
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M.
Dobrowolski SF, et al.
Hum Mutat. 2007 Nov;28(11):1133-40. doi: 10.1002/humu.20558.
Hum Mutat. 2007.
PMID: 17565723
Item in Clipboard
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M.
Caldovic L, et al.
Hum Mutat. 2005 Mar;25(3):293-8. doi: 10.1002/humu.20146.
Hum Mutat. 2005.
PMID: 15714518
Item in Clipboard
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M, Tuchman M.
Caldovic L, et al.
J Pediatr. 2004 Oct;145(4):552-4. doi: 10.1016/j.jpeds.2004.06.047.
J Pediatr. 2004.
PMID: 15480384
Item in Clipboard
Mammalian N-acetylglutamate synthase.
Morizono H, Caldovic L, Shi D, Tuchman M.
Morizono H, et al.
Mol Genet Metab. 2004 Apr;81 Suppl 1(Suppl 1):S4-11. doi: 10.1016/j.ymgme.2003.10.017.
Mol Genet Metab. 2004.
PMID: 15050968
Free PMC article.
Review.
Item in Clipboard
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