Ascites in infantile onset type II Sialidosis

Ascites in infantile onset type II Sialidosis

Abstract Sialidosis is a rare autosomal‐recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha‐n‐acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in the lysosomes of various organs and tissue...

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Bibliographic Details
Main Authors: Kaoutar Tazi, Vanessa Guy‐Viterbo, Alexander Gheldof, Aurélie Empain, Anne Paternoster, Corinne De Laet
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:JIMD Reports
Subjects:
ascites
hypoalbuminemia
nephrosialidosis
portal hypertension
protein‐losing enteropathy
type II sialidosis
Online Access:https://doi.org/10.1002/jmd2.12305

Internet

https://doi.org/10.1002/jmd2.12305

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