Quantification of amino acids and peptides in an ionic liquid based aqueous two-phase system by LC–MS analysis

por Oppermann, Sebastian, Oppermann, Christina, Böhm, Miriam, Kühl, Toni, Imhof, Diana, Kragl, Udo
Publicado 2018

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

por Dinur, Tama, Zimran, Ari, Becker-Cohen, Michal, Arkadir, David, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Revel-Vilk, Shoshana
Publicado 2019

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

por Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana
Publicado 2019

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

por Cozma, Claudia, Cullufi, Paskal, Kramp, Guido, Hovakimyan, Marina, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Fischer, Steffen, Oppermann, Sebastian, Grittner, Ulrike, Bauer, Peter, Beetz, Christian, Rolfs, Arndt
Publicado 2020

Prevalence of Fabry Disease among Patients with Parkinson's Disease

por Lackova, Alexandra, Beetz, Christian, Oppermann, Sebastian, Bauer, Peter, Pavelekova, Petra, Lorincova, Tatiana, Ostrozovicova, Miriam, Kulcsarova, Kristina, Cobejova, Jana, Cobej, Martin, Levicka, Petra, Liesenerova, Simona, Sendekova, Daniela, Sukovska, Viktoria, Gdovinova, Zuzana, Han, Vladimir, Rizig, Mie, Houlden, Henry, Skorvanek, Matej
Publicado 2022

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

por Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C. Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida
Publicado 2023

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

por Almeida, Ligia S., Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C. L. S., Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M., Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B., Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, Bauer, Peter
Publicado 2022