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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: wilson mp. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Disorders affecting vitamin B6 metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT. Wilson MP, et al. J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. J Inherit Metab Dis. 2019. PMID: 30671974 Review.
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
Blommaert E, Cherepanova NA, Staels F, Wilson MP, Gilmore R, Schrijvers R, Jaeken J, Foulquier F, Matthijs G. Blommaert E, et al. Among authors: wilson mp. Hum Genet. 2022 Jul;141(7):1279-1286. doi: 10.1007/s00439-021-02400-1. Epub 2022 Feb 19. Hum Genet. 2022. PMID: 35182234
279 results