Scientific Publications
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‘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.
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, […]
Alsin Related Disorders
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral […]
Rett-Like Onset in Late-Infantile Neuronal Ceroid Lipofuscinosis
We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later […]
Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations
Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).
Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of […]
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.
Lessons from Everyday Stroke Care for Clinical Research and Vice Versa: Comparison of a Comprehensive and a Research Population of Young Stroke Patients
The comparison of baseline characteristics between the sifap1 study and the GQH registry revealed differences mainly determined by age.
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. […]