Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-ons...

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Detalles Bibliográficos
Autores principales: Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957780/
https://www.ncbi.nlm.nih.gov/pubmed/31956508
http://dx.doi.org/10.1016/j.ymgmr.2019.100561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957780/
https://www.ncbi.nlm.nih.gov/pubmed/31956508
http://dx.doi.org/10.1016/j.ymgmr.2019.100561

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