Scientific Publications
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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 […]
Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy […]
Functional Characterisation of Alpha-Galactosidase
In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) […]
Broad Spectrum of Fabry Disease Manifestation
Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of […]
A Founder Mutation Causing a Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Bukharian Jews
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish […]