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Year | Number of Results |
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10.
Mol Genet Metab. 2010.
PMID: 20188616
Free PMC article.
Review.
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.
Krivitzky L, Babikian T, Lee HS, Thomas NH, Burk-Paull KL, Batshaw ML.
Krivitzky L, et al.
Pediatr Res. 2009 Jul;66(1):96-101. doi: 10.1203/PDR.0b013e3181a27a16.
Pediatr Res. 2009.
PMID: 19287347
Free PMC article.
Item in Clipboard
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Summar ML, Dobbelaere D, Brusilow S, Lee B.
Summar ML, et al.
Acta Paediatr. 2008 Oct;97(10):1420-5. doi: 10.1111/j.1651-2227.2008.00952.x. Epub 2008 Jul 17.
Acta Paediatr. 2008.
PMID: 18647279
Free PMC article.
Item in Clipboard
Hyperargininemia due to liver arginase deficiency.
Crombez EA, Cederbaum SD.
Crombez EA, et al.
Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19.
Mol Genet Metab. 2005.
PMID: 15694174
Review.
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