A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage. Clinical symptoms vary from the severe, infantile-onset form with hypertrophic cardiomyopathy, gross motor delay, and ear...

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Bibliographic Details
Main Author: Raymond Y. Wang
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:International Journal of Neonatal Screening
Subjects:
pompe disease
late-onset
infantile-onset
newborn screening
presymptomatic
c.-32-13t&amp
gt
g
Online Access:https://www.mdpi.com/2409-515X/6/1/22

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https://www.mdpi.com/2409-515X/6/1/22

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