Boyer SW - Search Results

1

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. Vaes L, et al. Among authors: boyer sw. JIMD Rep. 2020 Apr 28;54(1):16-21. doi: 10.1002/jmd2.12122. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685345 Free PMC article.

2

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. 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.

3

Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.

Muthusamy K, Boyer S, Patterson M, Bierau J, Wortmann S, Morava E. Muthusamy K, et al. Neurology. 2021 Jul 6;97(1):e109-e110. doi: 10.1212/WNL.0000000000011719. Epub 2021 Feb 16. Neurology. 2021. PMID: 33593863 Free PMC article. No abstract available.

4

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. 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.

5

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. 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

6

Nutrition interventions in congenital disorders of glycosylation.

Boyer SW, Johnsen C, Morava E. Boyer SW, et al. Trends Mol Med. 2022 Jun;28(6):463-481. doi: 10.1016/j.molmed.2022.04.003. Epub 2022 May 10. Trends Mol Med. 2022. PMID: 35562242 Free PMC article. Review.

7

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. 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.

8

Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.

Barman H, Sikirica V, Carlson K, Silvert E, Carlson KB, Boyer S, Glaser R, Morava E, Wagner T, Lanpher B. Barman H, et al. Mol Genet Metab. 2023 Nov;140(3):107695. doi: 10.1016/j.ymgme.2023.107695. Epub 2023 Sep 2. Mol Genet Metab. 2023. PMID: 37708666 Free article.

9

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK. Starosta RT, et al. Among authors: boyer sw. JIMD Rep. 2023 Sep 20;64(6):424-433. doi: 10.1002/jmd2.12396. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927489 Free PMC article.

10

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.

Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F. Soler-Alfonso C, et al. Mol Genet Metab Rep. 2019 Jan 25;19:100453. doi: 10.1016/j.ymgmr.2019.100453. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30740308 Free PMC article.

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