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Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age. We describe the first case of mucopolysaccharidosis type I presenting with non...

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Detalles Bibliográficos
Autores principales: Miselli, Francesca, Brambilla, Alice, Calabri, Giovanni Battista, Favilli, Silvia, Sanvito, Maria Chiara, Ragni, Luca, Torcetta, Francesco, Rossi, Katia, Donati, Maria Alice, Procopio, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851837/
https://www.ncbi.nlm.nih.gov/pubmed/33552908
http://dx.doi.org/10.1016/j.ymgmr.2021.100714