Method for the Diagnosis of Niemann-Pick Disease
AssigneeCentogene AG
InventorsArndt Rolfs, Hermann Mascher
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Abstract
The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject.
Claims11
1-150. (canceled)
A method for generating quantitative data for a subject comprising determining a level of a biomarker in samples from a subject, wherein the samples are samples of blood on a dry filter card, wherein the samples are taken at several points in time from the subject, wherein the subject is suffering from Niemann-Pick disease or suspected of suffering from Niemann-Pick disease, and wherein the biomarker is compound 509, wherein compound 509 has a molecular weight of 508 detected as MRM transition in positive mode 509 m/z to 184 m/z.
Dependencies are inferred from the claim text.