Cozma, Claudia: search on Z-Library

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1

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

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 47 KB

english, 2018

2

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 1.34 MB

2019

3

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Journal:

Year:

2016

Language:

english

File:

PDF, 547 KB

english, 2016

4

Glucosylsphingosine concentration is the most reliable response-parameter for low-dose ERT in homozygous N370S Gaucher patients

Arkadir, David, Dinur, Tama, Revel-Vilk, Shoshana, Cohen, Michal Becker, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 48 KB

english, 2018

5

Quantification of glucosylshingosine (lyso-Gb1) for the diagnosis and monitoring of Gaucher disease

Cozma, Claudia, Couchon, Elizabeth Couchon, Giese, Anne-Katrin, Iurascu, Marius, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

6

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients

Hovakimyan, Marina, Talabattula, Venkata Ajay Narendra, Cozma, Claudia, Beetz, Christian, Rolfs, Arndt, Elstein, Deborah

Journal:

Blood Cells, Molecules, and Diseases

Year:

2020

Language:

english

File:

PDF, 831 KB

english, 2020

7

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.34 MB

english, 2019

8

Lebanese Television on Twitter: A Study of Uses and (Dis)Engagement

Kozman, Claudia, Cozma, Raluca

Journal:

Journalism Practice

Year:

2020

Language:

english

File:

PDF, 1.51 MB

english, 2020

9

Lyso-SM-509 is an easy-measurable and sensitive biomarker for Niemann-Pick disease: a two year study

Cozma, Claudia, Kramp, Guido, Giese, Anne-Katrin, Zielke, Susanne, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

10

Glucosylsphingosine is a reliable response biomarker in Gaucher disease

Arkadir, David, Dinur, Tama, Revel-Vilk, Shoshana, Becker Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

Journal:

American Journal of Hematology

Year:

2018

Language:

english

File:

PDF, 302 KB

english, 2018

11

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

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

12

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, Kropp, Peter, Rolfs, Arndt

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 7.91 MB

english, 2017

13

Increasing Medical Student's Skills by Liver Ultrasound Simulation

Gliga, Mirela, Chirila, Paula, Torok, Imola, Voicu, Sanda, Cozma, Claudia, Podeanu, Daniela, Gomotarceanu, Adriana, Chirila, Cristian

Journal:

Ultrasound in Medicine & Biology

Year:

2017

Language:

english

File:

PDF, 225 KB

english, 2017

14

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

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

15

The Syrian crisis in U.S. and Lebanese newspapers: A cross-national analysis

Cozma, Raluca, Kozman, Claudia

Journal:

International Communication Gazette

Year:

2017

Language:

english

File:

PDF, 368 KB

english, 2017

16

Testing the feasibility of fully automated chip-based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease

Flangea, Corina, Mosoarca, Cristina, Cozma, Claudia, Galusca, Mirela, Przybylski, Michael, Zamfir, Alina D.

Journal:

ELECTROPHORESIS

Year:

2013

Language:

english

File:

PDF, 396 KB

english, 2013

17

Resistivity and Pulsatility Index in Diabetic Nephropathy: A Phoenix Bird?

Chirilă, Cristian Nicolae, Chirilă, Paula Maria, Gliga, Mirela Liana, Podeanu, Daniela Maria, Gomotârceanu, Adriana, Cozma, Claudia, Voicu, Sanda, Torok, Imola

Journal:

Ultrasound in Medicine & Biology

Year:

2017

Language:

english

File:

PDF, 333 KB

english, 2017

18

Pitfalls in Kidney Ultrasonography: Rare Diseases

Chirilă, Paula Maria, Chirilă, Cristian Nicolae, Gliga, Mirela Liana, Podeanu, Daniela Maria, Gomotârceanu, Adriana, Voicu, Sanda, Cozma, Claudia, Torok, Imola

Journal:

Ultrasound in Medicine & Biology

Year:

2017

Language:

english

File:

PDF, 183 KB

english, 2017

19

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

Kloth, Katja, Cozma, Claudia, Bester, Maxim, Gerloff, Christian, Biskup, Saskia, Zittel, Simone

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 1.70 MB

2020

20

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

Journal:

Journal of the American Society for Mass Spectrometry

Year:

2016

Language:

english

File:

PDF, 939 KB

english, 2016

21

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

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 2.60 MB

english, 2017

22

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials

Elstein, Deborah, Mellgard, Björn, Dinh, Quinn, Lan, Lan, Qiu, Yongchang, Cozma, Claudia, Eichler, Sabrina, Böttcher, Tobias, Zimran, Ari

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1020 KB

english, 2017

23

Two-tier screening approach for the identification of hereditary angioedema type 1 & 2 patients

Cozma, Claudia, Iurascu, Marius I., Skrahina, Volha, Beetz, Christian, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 336 KB

2020

24

1471: Focal Pyelonephritis- More Frecvent that we Think? Importance of Ultrasound Examination in Early Diagnosis

Mirela Gliga, Daniela Podeanu, Claudia F. Cozma, Lehel G. Mathe, Rares C. Georgescu, Mihai Gliga, Grigore G. Dogaru

Journal:

Ultrasound in Medicine & Biology

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

25

C26-ceramide is a new and sensitive biomarker for Farber disease

Cozma, Claudia, Iurascu, Marius, Zielke, Susanne, Lukas, Jan, Eichler, Sabrina, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

26

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, Patnaik, Santosh

Journal:

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

27

Glucosylsphingosine for the screening, diagnosis, monitoring and prediction in Gaucher disease

Cozma, Claudia, Beetz, Christian, Demuth, Laura, Hovakymian, Marina, Oppermann, Sebastian, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 319 KB

2020

28

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients

Beetz, Christian, Hovakimyan, Marina, Talabattula, Venakta Ajay Narendra, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt, Elstein, Deborah

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 335 KB

2020

29

Biochemical and genetic data in a large, worldwide Fabry cohort

Boettcher, Tobias, Cozma, Claudia, Iurascu, Marius, Kramp, Guido, Eichler, Sabrina, Lukas, Jan, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

30

Screening for biomarkers of Farber disease using C26 using mass spectrometry

Rolfs, Arndt, Iurascu, Marius, Hovakimyan, Marina, Zielke, Susanne, Cozma, Claudia

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

31

Biochemical and genetic characteristics of the largest worldwide Fabry cohort reported to present

Cozma, Claudia, Iurascu, Marius I., Oprea, Gabriela, Lukas, Jan, Zielke, Susanne, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 53 KB

english, 2018

32

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA -related Parkinson's disease

Arkadir, David, Dinur, Tama, Becker Cohen, Michal, Revel-Vilk, Shoshana, Tiomkin, Maayan, Brüggemann, Norbert, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari

Journal:

European Journal of Neurology

Year:

2019

File:

PDF, 820 KB

2019

33

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, Ch

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 1.35 MB

2020

34

Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy

Marius Ionuţ Iuraşcu, Claudia Cozma, Nick Tomczyk, John Rontree, Michael Desor, Malte Drescher, Michael Przybylski

Journal:

Analytical and Bioanalytical Chemistry

Year:

2009

Language:

english

File:

PDF, 2.02 MB

english, 2009

35

The Syrian Crisis in the News

Cozma, Raluca, Kozman, Claudia

Journal:

Journalism Practice

Year:

2015

Language:

english

File:

PDF, 319 KB

english, 2015

36

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Journal:

Year:

2016

File:

PDF, 74 KB

2016

37

Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease

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

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 48 KB

english, 2019

38

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

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 319 KB

2020

39

Insomnia, muscular cramps and pruritus have low intensity in hemodialysis patients with good dialysis efficiency, low inflammation and arteriovenous fistula

Orasan, Olga Hilda, Saplontai, Aniela Pop, Cozma, Angela, Racasan, Simona, Kacso, Ina Maria, Rusu, Crina Claudia, Moldovan, Diana, Tirinescu, Dacian, Potra, Alina, Patiu, Ioan Mihai, Orasan, Remus Aur

Journal:

International Urology and Nephrology

Year:

2017

Language:

english

File:

PDF, 426 KB

english, 2017

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