Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme ac...

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Detalles Bibliográficos
Autores principales: Coppola, Antonietta, Ianniciello, Marta, Vanli-Yavuz, Ebru N., Rossi, Settimio, Simonelli, Francesca, Castellotti, Barbara, Esposito, Marcello, Tozza, Stefano, Troisi, Serena, Bellofatto, Marta, Ugga, Lorenzo, Striano, Salvatore, D’Amico, Alessandra, Baykan, Betul, Striano, Pasquale, Bilo, Leonilda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465165/
https://www.ncbi.nlm.nih.gov/pubmed/32752208
http://dx.doi.org/10.3390/brainsci10080506

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465165/
https://www.ncbi.nlm.nih.gov/pubmed/32752208
http://dx.doi.org/10.3390/brainsci10080506

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