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
3 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
NGLY1 deficiency: a prospective natural history study.
Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106.
Hum Mol Genet. 2023.
PMID: 37379343
Free PMC article.
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR.
Levy RJ, et al. Among authors: frater ch.
J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11.
J Inherit Metab Dis. 2022.
PMID: 35243670
Item in Clipboard
Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.
Frater CH, Ruzhnikov MRZ, Beres S, Alcorn D, Shue A, Levy RJ.
Frater CH, et al.
J AAPOS. 2024 Apr 30:103925. doi: 10.1016/j.jaapos.2024.103925. Online ahead of print.
J AAPOS. 2024.
PMID: 38697387
Item in Clipboard
Cite
Cite