Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Authors: Rösner, Sabine, Pardo, Luba M., Bertoli-Avella, Aida M., Skrahina, Volha, Engel, Pierre, Schröder, Sabine, Zielske, Susan, Bonke, Valerie, Kreth, Janett, Westphal, Gina, Reder, Felix, Skobalj, Snezana, Zielke, Susanne, Bogdanovic, Xenia, Grieger, Paula, Rennecke, Jörg, Skripuletz, Thomas, Patten, Monica, Aßmus, Birgit, Hahn, Katrin

Source: Journal of Clinical Medicine; Oct2024, Vol. 13 Issue 20, p6197, 15p

Subject Terms: GENETIC variation, NUCLEOTIDE sequencing, DEMOGRAPHIC characteristics, AMYLOIDOSIS, GENDER differences (Sociology)

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Authors: Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt

Source: Scientific reports. 7(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171469854.0x000001&indx=1&recIds=ETOCvdc_100171469854.0x000001

Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations

Authors: Mahmoud, Iman G., Elmonem, Mohamed A., Elkhateeb, Nour M., Elnaggar, Walaa, Sobhi, Ahmed, Girgis, Marian Y., Kamel, Mona, Shaheen, Yara, Samaha, Mona, Ramadan, Areef, Zaki, Maha S., El‐Hawary, Bahaa, Hassan, Sawsan A., Khalifa, Iman A., Mossad, Fawzya, Al‐Menabawy, Nihal M., Zielke, Susanne, Gleeson, Joseph G., Rolfs, Arndt, Selim, Laila A.

Source: Clinical genetics. 95(4):537-539

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082922687.0x000001&indx=1&recIds=ETOCvdc_100082922687.0x000001

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Authors: Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia

Source: Diagnostics (2075-4418); Sep2023, Vol. 13 Issue 17, p2812, 11p

Subject Terms: GAUCHER'S disease, BIOMARKERS, ENZYME deficiency, SYMPTOMS, GENETIC variation

Quality of Care and Mortality among Patients with Stroke: A Nationwide Follow-Up Study

Authors: Ingeman, Annette, Pedersen, Lars, Hundborg, Heidi H., Petersen, Palle, Zielke, Susanne, Mainz, Jan, Bartels, Paul, Johnsen, Søren P.

Source: Medical Care, 2008 Jan 01. 46(1), 63-69.

Access URL: https://www.jstor.org/stable/40221622

HAE patient self-sampling for biomarker establishment.

Authors: Förster, Toni M., Magerl, Markus, Maurer, Marcus, Zülbahar, Selen, Zielke, Susanne, Inhaber, Neil, Crocetta, Donatello, Rolfs, Arndt, Skrahina, Volha

Source: Orphanet Journal of Rare Diseases; 9/28/2021, Vol. 16 Issue 1, p1-9, 9p

Subject Terms: BIOMARKERS, COVID-19 pandemic, ION mobility spectroscopy, GENETIC variation, ION mobility, DRIED blood spot testing

Geographic Terms: GERMANY

Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experience

Authors: Cozma, Claudia, Iurascu, Marius I., Oprea, Gabriela, Lukas, Jan, Zielke, Susanne, Giese, Anne-Katrin, Rolfs, Arndt

Source: Molecular genetics and metabolism. 123(2):S34-S34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100063740932.0x000001&indx=1&recIds=ETOCvdc_100063740932.0x000001

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

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

Source: Molecular genetics and metabolism. 123(2):S34-S34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100063740930.0x000001&indx=1&recIds=ETOCvdc_100063740930.0x000001

Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort

Authors: Cozma, Claudia, Zielke, Susanne, Iurascu, Marius, Demuth, Laura, Rolfs, Arndt

Source: Molecular genetics and metabolism. 123(2):S35-S35

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100063740927.0x000001&indx=1&recIds=ETOCvdc_100063740927.0x000001

Screening for biomarkers of Farber disease using C26 using mass spectrometry

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

Source: Molecular genetics and metabolism. 123(2):S124-S124

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100063739518.0x000001&indx=1&recIds=ETOCvdc_100063739518.0x000001

Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations

Authors: Rolfs, Arndt, Oprea, Gabriela, Kramp, Guido, Giese, Anne-Katrin, Zielke, Susanne, Lukas, Jan, Cozma, Claudia

Source: Molecular genetics and metabolism. 120(1/2):S116-S116

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100052510598.0x000001&indx=1&recIds=ETOCvdc_100052510598.0x000001

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

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

Source: Molecular genetics and metabolism. 120(1/2):S38-S38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042571126.0x000001&indx=1&recIds=ETOCvdc_100042571126.0x000001

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

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

Source: Molecular genetics and metabolism. 120(1/2):S38-S38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042571109.0x000001&indx=1&recIds=ETOCvdc_100042571109.0x000001