Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

The aim of the study is:

to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.

Inclusion Criteria:

• New born babies born during the study period

Exclusion Criteria:

• Premature babies