Article
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...
Topics
- Adult
- Child, Preschool
- Female
- Genetic Predisposition to Disease
- Glycogen Storage Disease Type II
- Humans
- Infant
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Neonatal Screening
- Pedigree
- alpha-Glucosidases