Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
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
Published in International journal of molecular sciences (30.01.2022)
Published in International journal of molecular sciences (30.01.2022)
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Journal Article
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
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
Published in International journal of molecular sciences (27.06.2020)
Published in International journal of molecular sciences (27.06.2020)
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Journal Article
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt
Published in PloS one (06.07.2015)
Published in PloS one (06.07.2015)
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Journal Article
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease
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
Published in International journal of molecular sciences (20.10.2017)
Published in International journal of molecular sciences (20.10.2017)
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Journal Article
Fully Stereocontrolled Total Syntheses of the Prostacyclin Analogues 16S-Iloprost and 16S-3-Oxa-Iloprost by a Common Route, Using Alkenylcopper-Azoalkene Conjugate Addition, Asymmetric Olefination, and Allylic Alkylation
Kramp, Guido J, Kim, Mikhail, Gais, Hans-Joachim, Vermeeren, Cornelia
Published in Journal of the American Chemical Society (21.12.2005)
Published in Journal of the American Chemical Society (21.12.2005)
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Journal Article
Gaucher disease diagnosis using lyso-Gb1 on dry blood spot samples: Seven years of experience
Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Biochemical and genetic data in a large, worldwide Fabry cohort
Boettcher, Tobias, Cozma, Claudia, Iurascu, Marius, Kramp, Guido, Eichler, Sabrina, Lukas, Jan, Rolfs, Arndt
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations
Rolfs, Arndt, Oprea, Gabriela, Kramp, Guido, Giese, Anne-Katrin, Zielke, Susanne, Lukas, Jan, Cozma, Claudia
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
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
Published in Orphanet journal of rare diseases (17.06.2015)
Published in Orphanet journal of rare diseases (17.06.2015)
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Journal Article
Development of a Common Fully Stereocontrolled Access to the Medicinally Important and Promising Prostacyclin Analogues Iloprost, 3-Oxa-Iloprost and Cicaprost
Gais, Hans-Joachim, Kramp, Guido Johannes, Wolters, Dennis, Reddy, Leleti Rajender
Published in Chemistry : a European journal (17.07.2006)
Published in Chemistry : a European journal (17.07.2006)
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Journal Article
Fully Stereocontrolled Total Syntheses of the Prostacyclin Analogues 16 S -Iloprost and 16 S -3-Oxa-Iloprost by a Common Route, Using Alkenylcopper-Azoalkene Conjugate Addition, Asymmetric Olefination, and Allylic Alkylation
Kramp, Guido J., Kim, Mikhail, Gais, Hans-Joachim, Vermeeren, Cornelia
Published in Journal of the American Chemical Society (01.12.2005)
Published in Journal of the American Chemical Society (01.12.2005)
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Journal Article