Patent classifications
G01N2405/10
METHOD FOR DETECTING LYSOSOMAL STORAGE DISEASE BIOMARKERS AND KITS FOR PERFORMING THE METHOD
The present invention provides methods for detecting multiple biomarkers indicative for lysosomal storage diseases from a dried blood spot. In particular, the present invention provides a method that is suited for detecting multiple biomarkers, each indicative for the presence of a distinct lysosomal storage disease in a subject, based on a single sample preparation procedure. In particular, the method allows simultaneous extraction of different biomarkers such as Lyso-Gb1 (GlcSph). Lyso-Gb3, and others from a dried blood spot sample. The invention further provides a kit of parts comprising means for conducting the methods subject of the invention. Finally, the invention provides a set of reference ranges for Lyso-Gb1 (GlcSph) and Lyso-Gb3 in healthy subjects starting from dried blot spot samples.
QUANTITATIVE DETERMINATION METHOD FOR Hex4, LYSO-GM1, Fuc-GlcNAc-Asn, AND LYSO-SULFATIDE INCLUDED IN CEREBROSPINAL FLUID
A method for quantifying Hex4, lyso-GM1, Fuc-GlcNAc-Asn, or lyso-sulfatide included in cerebrospinal fluid, the method including adding an internal standard substance to a solution including the cerebrospinal fluid, submitting the solution including the cerebrospinal fluid, to which the internal standard substance has been added, to liquid chromatography to obtain an eluate, and subjecting the eluate to mass analysis.