Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

por Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt
Publicado 2015

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

por Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana
Publicado 2022

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease

por Lukas, Jan, Cozma, Claudia, Yang, Fan, Kramp, Guido, Meyer, Anja, Neßlauer, Anna-Maria, Eichler, Sabrina, Böttcher, Tobias, Witt, Martin, Bräuer, Anja U., Kropp, Peter, Rolfs, Arndt
Publicado 2017

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

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

por Giese, Anne-Katrin, Mascher, Hermann, Grittner, Ulrike, Eichler, Sabrina, Kramp, Guido, Lukas, Jan, te Vruchte, Danielle, Al Eisa, Nada, Cortina-Borja, Mario, Porter, Forbes D, Platt, Frances M, Rolfs, Arndt
Publicado 2015