Scientific Publications
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Identification of a Novel Deletion in the MMAA Gene in Two Iranian Siblings with Vitamin B12-Responsive Methylmalonic Acidemia
Adenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA […]
Multicenter Female Fabry Study (MFFS)
The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 […]
Niemann–Pick Type C in Early-Onset Ataxia
Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, […]
Pluripotent Stem Cells
Pluripotent stem cells have the ability to undergo self-renewal and to give rise to all cells of the tissues of the body. However, this definition has been recently complicated by the existence of […]
Molecular, Biochemical, and Structural Analysis of a Novel Mutation in Patients with Methylmalonyl-CoA Mutase Deficiency
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT […]
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6- sulfate sulfatase (GALNS), […]
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.
‘Omics’ and ‘Omes’ – The Future of Personalised Medicine
Advanced treatment – tailored to the individual patient instead of “one-size-fits-all” – is the zenith of personalized, or precision, medicine.
Continuous Cardiac Troponin I Release in Fabry Disease
Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.