Susanne Zielke

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

Sabine Rösner, Luba M. Pardo, Aida M. Bertoli‐Avella, Volha Skrahina et autres

Background: Hereditary transthyretin-related amyloidosis is a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene (hATTR amyloidosis). Objective: The current study describes the demographic, clinical, and genetic characteristics of patients with suspected hATTR amyloidosis. Methods: This study is …

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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

Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal et autres

Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1). The international, multicenter, observational “Lyso-Gb1 as a Long-term Prognostic Biomarker …

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HAE patient self-sampling for biomarker establishment

Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar et autres

BACKGROUND: Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhibitor (C1-INH). The pathogenic variants in the …

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

Iman G. Mahmoud, Mohamed A. Elmonem, Nour Elkhateeb, Walaa Elnaggar et autres

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Author response for "Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations"

Iman G. Mahmoud, Mohamed A. Elmonem, Nour Elkhateeb, Walaa Elnaggar et autres

Author response for "Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations"

Iman G. Mahmoud, Mohamed A. Elmonem, Nour Elkhateeb, Walaa Elnaggar et autres

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

Claudia Cozma, Susanne Zielke, Marius I. Iurascu, Laura Demuth et autres

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

Claudia Cozma, Marius I. Iurascu, Gabriela Oprea, Jan Lukáš et autres

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Screening for biomarkers of Farber disease using C26 using mass spectrometry

Arndt Rolfs, Marius I. Iurascu, Marina Hovakimyan, Susanne Zielke et autres

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

Claudia Cozma, Marius I. Iurascu, Gabriela Oprea, Jan Lukáš et autres

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Lyso-SM-509 Is a Highly Specific and Sensitive Biomarker for the Identification of Niemann-Pick Patients: a 30 Months Study

Peter Bauer, rer. nat. Claudia Cozma, Gabriela-Elena Oprea, Jan Lukáš et autres

C26Cer Is a Highly Sensitive Screening Biomarker for Farber Disease Based on Dry Blood Test (DBS)

rer. nat. Claudia Cozma, Marina Hovakimyan, Jan Lukáš, Susanne Zielke et autres