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

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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Bibliographic Details
Main Authors: Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919301697

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http://www.sciencedirect.com/science/article/pii/S2214426919301697

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