Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

INTRODUCTION: Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Ide...

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Detalles Bibliográficos
Autores principales: Jay, Allison M., Anne, Premchand, Stockton, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930708/
https://www.ncbi.nlm.nih.gov/pubmed/31915562
http://dx.doi.org/10.1155/2019/6274979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930708/
https://www.ncbi.nlm.nih.gov/pubmed/31915562
http://dx.doi.org/10.1155/2019/6274979

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