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C26Cer is a highly sensitive screening biomarker for Farber disease based on dry blood test (DBS)
The new biomarker can be determined directly in the dried blood spot (DBS) extract with low sample consumption, easy sample preparation, high reproducibility and it presents the possibility of being used in high…
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Glucosylsphingosine (lyso-Gb1) plays a central role in the diagnosis and proper assessment of disease severity in Gaucher patients
We have developed and systematically validated a high-throughput workflow for the simple testing of GD patients: beta-glucocerebrosidase enzymatic activity, glycosylsphingosine (lyso-Gb1) quantification in DBS followed…
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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity…
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Biochemical and genetic data from the largest global Fabry cohort reported to present
Fabry disease is an X-linked inherited lysosomal storage disease characterized by a deficient alpha-galactosidase caused by mutations in GLA gene. We present here the data collected over a period of over10 years…
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Heart and nervous system pathology in compound heterozygous Friedreich ataxia
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion,…
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CentoMD®: Genetic variants-related biomarker knowledge database
CentoMD® is a browser-based tool that enables access to a high-quality repository of genetic, biochemical and human phenotype ontology (HPO)-based clinical information. All patients provided informed consent before…
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Generalized epilepsy with febrile seizures
Epilepsy (generalized) with febrile seizures is a complex autosomal dominant disorder characterized by generalized febrile convulsions. Febrile seizures are the most common convulsive event occurring in 2-6% of the…
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Thrombocytopenia
Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of…
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Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the…
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Methylmalonic acidemia
Methylmalonic acidemia (MMA) is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. The prevalence of methylmalonic acidemia…