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Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Among authors: geiger v. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M, Panagiotou E, Himmelreich N, Hüllen A, Beedgen L, Dimitrov B, Geiger V, Zielonka M, Peters V, Strahl S, Vázquez-Jiménez J, Kerst G, Thiel C. Görlacher M, et al. Among authors: geiger v. Mol Genet Metab Rep. 2020 Nov 7;25:100673. doi: 10.1016/j.ymgmr.2020.100673. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33209585 Free PMC article.
11 results