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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Detalles Bibliográficos
Autor principal: Wang, Raymond Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422979/
https://www.ncbi.nlm.nih.gov/pubmed/33073019
http://dx.doi.org/10.3390/ijns6010022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422979/
https://www.ncbi.nlm.nih.gov/pubmed/33073019
http://dx.doi.org/10.3390/ijns6010022

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