Wilsey M - Search Results

1

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency.

Zhu L, Tan B, Dwight SS, Beahm B, Wilsey M, Crawford BE, Schweighardt B, Cook JW, Wechsler T, Mueller WF. Zhu L, et al. Among authors: wilsey m. Mol Ther Methods Clin Dev. 2022 Oct 3;27:259-271. doi: 10.1016/j.omtm.2022.09.015. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36320418 Free PMC article.

2

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.

3

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.

Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN. Stanclift CR, et al. Among authors: wilsey k, wilsey m. Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. Orphanet J Rare Dis. 2022. PMID: 36528660 Free PMC article.

4

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.

5

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.

Might M, Wilsey M. Might M, et al. Among authors: wilsey m. Genet Med. 2014 Oct;16(10):736-7. doi: 10.1038/gim.2014.23. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651604 Free article. No abstract available.

6

Concurrent cecal lipoma and Crohn's disease in a pediatric patient: A conservative approach.

Shargo RA, Ekblad M, Baran JV, Brown JM, Chamizo W, Karjoo S, Wilsey M. Shargo RA, et al. Among authors: wilsey m. JPGN Rep. 2024 Mar 13;5(2):158-161. doi: 10.1002/jpr3.12061. eCollection 2024 May. JPGN Rep. 2024. PMID: 38756132 Free PMC article.

7

Natural airway as an alternative to intubation for pediatric endoscopic esophageal foreign body removal: A retrospective cohort study of 326 patients.

Lonsdale H, Rodriguez K, Shargo R, Ekblad M, Brown JM, Dolan I, Fierstein JL, Miller A, Dey A, Peck J, Rehman MA, Wilsey MJ. Lonsdale H, et al. Among authors: wilsey mj. Paediatr Anaesth. 2024 Apr 9. doi: 10.1111/pan.14888. Online ahead of print. Paediatr Anaesth. 2024. PMID: 38591665

8

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.

9

Pulling instead of pushing: A case report of gastrostomy-assisted pull technique as an alternative method for endoluminal sponge placement in EVAC therapy.

Trocchia C, Shieh HF, Dolan I, Wilsey M, Smithers CJ. Trocchia C, et al. Among authors: wilsey m. JPGN Rep. 2024 Jan 18;5(1):74-78. doi: 10.1002/jpr3.12040. eCollection 2024 Feb. JPGN Rep. 2024. PMID: 38545279 Free PMC article.

10

Appendiceal mucinous neoplasm in adolescence: Diagnosis, management, and surveillance.

Farrar A, Blanco P, Fabbrini A, Armstrong L, Metts J, Monforte H, Karjoo S, Danielson P, Wilsey M. Farrar A, et al. Among authors: wilsey m. JPGN Rep. 2023 Dec 27;5(1):66-69. doi: 10.1002/jpr3.12017. eCollection 2024 Feb. JPGN Rep. 2023. PMID: 38545266 Free PMC article.

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