Ascites in infantile onset type II Sialidosis

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 tissues. Type I...

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Detalles Bibliográficos
Autores principales: Tazi, Kaoutar, Guy‐Viterbo, Vanessa, Gheldof, Alexander, Empain, Aurélie, Paternoster, Anne, De Laet, Corinne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259393/
https://www.ncbi.nlm.nih.gov/pubmed/35822090
http://dx.doi.org/10.1002/jmd2.12305

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259393/
https://www.ncbi.nlm.nih.gov/pubmed/35822090
http://dx.doi.org/10.1002/jmd2.12305

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