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 |
---|---|
1990 | 1 |
1994 | 1 |
2003 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983.
Hum Mol Genet. 1994.
PMID: 7874115
Adult phosphorylase b kinase deficiency.
Clemens PR, Yamamoto M, Engel AG.
Clemens PR, et al.
Ann Neurol. 1990 Oct;28(4):529-38. doi: 10.1002/ana.410280410.
Ann Neurol. 1990.
PMID: 2252364
Review.
Item in Clipboard
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.
Burwinkel B, et al.
Eur J Hum Genet. 2003 Jul;11(7):516-26. doi: 10.1038/sj.ejhg.5200996.
Eur J Hum Genet. 2003.
PMID: 12825073
Item in Clipboard
Cite
Cite