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Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

American journal of medical genetics. Part A - 1 Oct 2017

McIntosh Paul, Austin Stephanie, Sullivan Jennifer, Bailey Lauren, Bailey Carrie, Viskochil David, Kishnani Priya S

Abstract excerpt

Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of...

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PMID: 28763149
DOI: 10.1002/ajmg.a.38369

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GAA

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