Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

99 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Among authors: wilsey m. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
GlcNAc-Asn is a biomarker for NGLY1 deficiency.
Mueller WF, Zhu L, Tan B, Dwight S, Beahm B, Wilsey M, Wechsler T, Mak J, Cowan T, Pritchett J, Taylor E, Crawford BE. Mueller WF, et al. Among authors: wilsey m. J Biochem. 2022 Feb 21;171(2):177-186. doi: 10.1093/jb/mvab111. J Biochem. 2022. PMID: 34697629 Free PMC article.
Impact of the 2022 national formula shortage on clinical decision-making of healthcare providers in switching amino acid formulas for infants with cow's milk protein allergy: a survey-based study.
Baran JV, Brown JM, Farrar AA, Oliveros LV, Beacker J, Lamos L, Florio J, Fabbrini AL, Wilsey MJ. Baran JV, et al. Among authors: wilsey mj. Front Pediatr. 2024 Mar 15;12:1328506. doi: 10.3389/fped.2024.1328506. eCollection 2024. Front Pediatr. 2024. PMID: 38560398 Free PMC article.
99 results