Article

Determination of Acid α-Glucosidase Activity in Blood Spots as a Diagnostic Test for Pompe Disease

2001-08-01

Abstract excerpt

Abstract Background: Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the lysosomal acid α-glucosidase. Enzyme replacement therapy for the infantile and juvenile forms of Pompe disease currently is undergoing clinical trials. Early diagnosis before the onset of irreversible pathology is thought to be critical for maximum efficacy of current and propos...

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Literature Corpus work: b7615e9e-413b-50e8-a6c9-1fddc4deefee
DOI: 10.1093/clinchem/47.8.1378

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