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
Search Results
2 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
Ther Adv Rare Dis. 2022 Apr 17;3:26330040221091283. doi: 10.1177/26330040221091283. eCollection 2022 Jan-Dec.
Ther Adv Rare Dis. 2022.
PMID: 37180423
Free PMC article.
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE.
Duis J, et al. Among authors: waberski mb.
Ann Neurol. 2016 Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24.
Ann Neurol. 2016.
PMID: 27463701
Free PMC article.
Item in Clipboard
Cite
Cite