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 |
---|---|
2002 | 1 |
2005 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
J Clin Invest. 2002 Feb;109(3):357-62. doi: 10.1172/JCI14571.
J Clin Invest. 2002.
PMID: 11827995
Free PMC article.
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
Burwinkel B, et al.
Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
Am J Hum Genet. 2005.
PMID: 15877279
Free PMC article.
Item in Clipboard
Cite
Cite