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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2019
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| 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 |