Congenital disorders of glycosylation (CDG) are rare hereditary diseases caused by mutations of genes coding enzymes of complex glycosylation pathways. Common clinical manifestation includes growth...

The diagnosis of lysosomal storage disorders requires a highly personalized approach as these diseases cov- er a wide range of hereditary metabolic disorders with highly...

Immunodetection techniques are established standards for the identification and quantification of proteins in samples in clinical diagnostics. However, they have limitations, such as the detection...

The myelodysplastic syndrome (MDS) is a heterogeneous group of clonal haematopoietic disorders originated in the bone marrow. It is characterized by ineffective haematopoiesis, dysplastic changes...