Publications by authors named "Sebastian Oppermann"

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A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.
Tobias Boettcher, Christian Beetz, Daniel Schulze, Deepa Saravanakumar, Emir Zonic, Sebastian Oppermann

Neurol Genet· August 2025

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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Pilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, Sabine Schroeder, Deepthi Vagiri, Sebastian Oppermann

Eur J Hum Genet· October 2023

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Sebastian Oppermann

Eur J Hum Genet· September 2022

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Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova

Parkinsons Dis· January 2022

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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots.
Claudia Cozma, Paskal Cullufi, Guido Kramp, Marina Hovakimyan, Virtut Velmishi, Sebastian Oppermann

Int J Mol Sci· June 2020

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Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.
Tama Dinur, Ari Zimran, Michal Becker-Cohen, David Arkadir, Claudia Cozma, Sebastian Oppermann

J Clin Med· October 2019

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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.
Noa Hurvitz, Tama Dinur, Michal Becker-Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann

Int J Mol Sci· June 2019

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Quantification of amino acids and peptides in an ionic liquid based aqueous two-phase system by LC-MS analysis.
Sebastian Oppermann, Christina Oppermann, Miriam Böhm, Toni Kühl, Diana Imhof

AMB Express· April 2018

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Ionic liquids for two-phase systems and their application for purification, extraction and biocatalysis.
Sebastian Oppermann, Florian Stein, Udo Kragl

Appl Microbiol Biotechnol· February 2011

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