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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

645 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Patient-reported outcomes and quality of life in PMM2-CDG.
Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E. Ligezka AN, et al. Among authors: boyer s. Mol Genet Metab. 2022 Jun;136(2):145-151. doi: 10.1016/j.ymgme.2022.04.002. Epub 2022 Apr 20. Mol Genet Metab. 2022. PMID: 35491370
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Starosta RT, et al. Among authors: boyer s. Orphanet J Rare Dis. 2021 Jan 7;16(1):20. doi: 10.1186/s13023-020-01630-2. Orphanet J Rare Dis. 2021. PMID: 33413482 Free PMC article.
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Tahata S, et al. Among authors: boyer s. Am J Med Genet A. 2022 Jul;188(7):2005-2018. doi: 10.1002/ajmg.a.62737. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338746 Review.
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Radenkovic S, Johnsen C, Schulze A, Lail G, Guilder L, Schwartz K, Schultz M, Mercimek-Andrews S, Boyer S, Morava E. Radenkovic S, et al. Among authors: boyer s. Ther Adv Rare Dis. 2023 Jan 26;4:26330040221150269. doi: 10.1177/26330040221150269. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37181075 Free PMC article.
645 results