Scientific Publications
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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 […]
Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the […]
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 […]
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative […]
Glucocerebrosidase Mutations in a Serbian Parkinson’s Disease Population
Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild […]
Investigating Function and Connectivity of Morphometric Findings – Exemplified on Cerebellar Atrophy in Spinocerebellar Ataxia 17 (SCA17)
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia but also a broad spectrum of other neuropsychiatric […]
Newborn Screening for Lysosomal Storage Disorders in Hungary
Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be […]
A Novel SGCE Gene Mutation Causing Myoclonus Dystonia in a Family with an Unusual Phenotype
Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients […]
Autosomal Dominant Parkinson's Disease in a Large German Pedigree
Parkinson´s disease (PD) is a common disabling neurodegenerative disorder characterized by bradykinesia, rest tremor, rigidity, and postural instability with a prevalence of 2% in elderly persons. […]