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Page 1
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Development. 2021 Jun 1;148(11):dev199385. doi: 10.1242/dev.199385. Epub 2021 Jun 9.
Development. 2021.
PMID: 34106226
Free PMC article.
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: beedgen l.
Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.
Hum Mutat. 2019.
PMID: 31067009
Review.
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Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.
Kale D, Kikul F, Phapale P, Beedgen L, Thiel C, Brügger B.
Kale D, et al. Among authors: beedgen l.
Anal Chem. 2023 Feb 14;95(6):3210-3217. doi: 10.1021/acs.analchem.2c03623. Epub 2023 Jan 30.
Anal Chem. 2023.
PMID: 36716239
Free PMC article.
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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN).
Brennenstuhl H, et al. Among authors: beedgen l.
J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28.
J Inherit Metab Dis. 2021.
PMID: 34145613
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A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies.
Beedgen L, Hüllen A, Gücüm S, Thumberger T, Wittbrodt J, Thiel C.
Beedgen L, et al.
Lab Anim. 2022 Jun;56(3):270-278. doi: 10.1177/00236772211045483. Epub 2021 Sep 22.
Lab Anim. 2022.
PMID: 34551636
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Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Sakson R, Beedgen L, Bernhard P, Alp KM, Lübbehusen N, Röth R, Niesler B, Luzarowski M, Shevchuk O, Mayer MP, Thiel C, Ruppert T.
Sakson R, et al. Among authors: beedgen l.
Int J Mol Sci. 2024 Jan 18;25(2):1191. doi: 10.3390/ijms25021191.
Int J Mol Sci. 2024.
PMID: 38256263
Free PMC article.
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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: beedgen l.
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.
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