Scientific Publications
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A Novel, Highly Sensitive and Specific Biomarker for Niemann-Pick Type C1 Disease
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.
Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more […]
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, […]
Relative Acidic Compartment Volume as a Biomarker
In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients derived from multiple independent clinical cohorts to ensure statistical power. […]
Plasma Glucosylsphingosine: A Specific and Sensitive Biomarker for the Primary Diagnostic and Follow-Up in Patients with Gaucher Disease
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to […]
Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease
Our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease.
Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
Our data demonstrate a pronounced neurodegeneration and glia activation in the olfactory system of NPC1-/-, which is accompanied by sensory deficits.
Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease
Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the […]
Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, […]