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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants present...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915381/ https://www.ncbi.nlm.nih.gov/pubmed/35264382 http://dx.doi.org/10.1136/bcr-2021-247312 |