Publications by authors named "Lars Beedgen"

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Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Roman Sakson, Lars Beedgen, Patrick Bernhard, K Merve Alp, Nicole Lübbehusen

Int J Mol Sci· January 2024

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Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.
Dipali Kale, Frauke Kikul, Prasad Phapale, Lars Beedgen, Christian Thiel

Anal Chem· February 2023

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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.
Lars Beedgen, Andreas Hüllen, Sevinç Gücüm, Thomas Thumberger, Jochen Wittbrodt

Lab Anim· June 2022

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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen

J Inherit Metab Dis· September 2021

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A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Sevinç Gücüm, Roman Sakson, Marcus Hoffmann, Valerian Grote, Clara Becker, Lars Beedgen

Development· June 2021

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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen

Mol Genet Metab Rep· December 2020

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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.
Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars Beedgen

Hum Mutat· July 2019

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