Biomarkers play ideally an essential role in the early diagnosis, prediction and therapeutic monitoring of diseases, reflecting the burden of the disease for the patients. Regular monitoring both for disease onset and progression but also demonstrating the benefit of potential treatment are of high value for the patients. Biomarkers bring rationality in the treatment of patients with rare diseases.
Articles on Biomarkers
Lyso-SM-509 Is a Highly Specific and Sensitive Biomarker for the Identification of Niemann-Pick Patients: a 30 Months Study
We present data from a 2 year global cohort of Niemann Pick patients using lyso-SM-509 biomarker determination, followed by sequencing of NPC1/2 genes. Determination of lyso-SM-509 is performed by LC/MRM-MS in plasma, serum, EDTA blood anddried blood spots (DBS). We identified in a world-wide study…
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 throughput screenings.
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 by GBA gene sequencing from the sample blood sample. We report data from over 940…
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 regarding in vitro Fabry diagnosis.
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 inclusion in the DB.