Methods for screening a indivu00ecduo as a disease of storage of glycogen, to clear up a indivu00ecduo for Pompe disease.To monitor the condition of a clinically indivu00ecduo with Pompe disease.To estimate the efficacy of a therapeutic regimen in a indivu00ecduo with Pompe disease and to determine the concentration of a oligossacaru00ecdeo in a biological sample

摘要

Methods for screening a indivu00ecduo as a disease of storage of glycogen, to clear up a indivu00ecduo for Pompe disease.To monitor the condition of a clinically indivu00ecduo with Pompe disease.To estimate the efficacy of a therapeutic regimen in a indivu00ecduo with Pompe disease and to determine the concentration of a oligossacaru00ecdeo in a biological sample.Methods are provided for screening individuals of lysosomal storage diseases, preferably glycogen storage diseases, with a tetrassacaru00eddeo as a biomarker.In a preferred version, the individuals are sorted as to Pompe disease (that is, glycogen storage disease type II). They are also provided with newborn screening tests.The present invention provides methods for monitoring the clinical condition and efficacy of therapeutic treatment in affected individuals.Also provided are methods of measuring a biomarker of tetrassacaru00eddeo by mass spectrometry sequ00b3encial, preferably as part of a test for newborn screening for Pompe disease.