At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
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
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
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
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Bertoli-Avella, Aida M, Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K, Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A, Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Journal Article
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema
Iuraşcu, Marius‐Ionuţ, Balla, Zsuzsanna, Pereira, Catarina, Andrási, Noémi, Varga, Lilian, Csuka, Dorottya, Szilágyi, Ágnes, Tripolszki, Kornelia, Khan, Suliman, Susnea, Iuliana, Bauer, Peter, Cozma, Claudia, Farkas, Henriette
Published in Clinical and translational allergy (01.11.2023)
Published in Clinical and translational allergy (01.11.2023)
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Journal Article
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt
Published in Scientific reports (21.07.2017)
Published in Scientific reports (21.07.2017)
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Journal Article
An HLA-B27 Homodimer Specific Antibody Recognizes a Discontinuous Mixed-Disulfide Epitope as Identified by Affinity-Mass Spectrometry
Iuraşcu, Marius-Ionuţ, Marroquin Belaunzanar, Osiris, Cozma, Claudia, Petrausch, Ulf, Renner, Christoph, Przybylski, Michael
Published in Journal of the American Society for Mass Spectrometry (01.06.2016)
Published in Journal of the American Society for Mass Spectrometry (01.06.2016)
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Journal Article
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A, Alhashem, Amal M, Ben-Omran, Tawfeg, Mahmoud, Iman G, Al Menabawy, Nihal M, Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt
Published in Orphanet journal of rare diseases (27.08.2019)
Published in Orphanet journal of rare diseases (27.08.2019)
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Journal Article
Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort
Cozma, Claudia, Zielke, Susanne, Iurascu, Marius, Demuth, Laura, Rolfs, Arndt
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Screening for biomarkers of Farber disease using C26 using mass spectrometry
Rolfs, Arndt, Iurascu, Marius, Hovakimyan, Marina, Zielke, Susanne, Cozma, Claudia
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Hyaline fibromatosis syndrome: Genetic, clinical and biochemical characterization of a large cohort of patients
Cozma, Claudia, Hovakymian, Marina, Iurascu, Marius I., Demuth, Laura, Beetz, Christian, Bauer, Peter, Rolfs, Arndt
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experience
Cozma, Claudia, Iurascu, Marius I., Oprea, Gabriela, Lukas, Jan, Zielke, Susanne, Giese, Anne-Katrin, Rolfs, Arndt
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy
Ionuţ Iuraşcu, Marius, Cozma, Claudia, Tomczyk, Nick, Rontree, John, Desor, Michael, Drescher, Malte, Przybylski, Michael
Published in Analytical & bioanalytical chemistry (Print) (01.12.2009)
Published in Analytical & bioanalytical chemistry (Print) (01.12.2009)
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Journal Article
Conference Proceeding
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
C26-ceramide is a new and sensitive biomarker for Farber disease
Cozma, Claudia, Iurascu, Marius, Zielke, Susanne, Lukas, Jan, Eichler, Sabrina, 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
Antibody Epitope of Human α‐Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease
Kukacka, Zdenek, Iurascu, Marius, Lupu, Loredana, Rusche, Hendrik, Murphy, Mary, Altamore, Lorenzo, Borri, Fabio, Maeser, Stefan, Papini, Anna Maria, Hennermann, Julia, Przybylski, Michael
Published in ChemMedChem (08.05.2018)
Published in ChemMedChem (08.05.2018)
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Journal Article
Characterization of oligomerization-aggregation products of neurodegenerative target proteins by ion mobility mass spectrometry
Vlad, Camelia, Iurascu, Marius Ionut, Slamnoiu, Stefan, Hengerer, Bastian, Przybylski, Michael
Published in Methods in molecular biology (Clifton, N.J.) (2012)
Published in Methods in molecular biology (Clifton, N.J.) (2012)
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Journal Article