Cargando…
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete deficiency of α‐neuraminidase, following mutations i...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981418/ https://www.ncbi.nlm.nih.gov/pubmed/36873090 http://dx.doi.org/10.1002/jmd2.12357 |