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pro vyhledávání: '"Anne Paternoster"'
Autor:
Kaoutar Tazi, Vanessa Guy‐Viterbo, Alexander Gheldof, Aurélie Empain, Anne Paternoster, Corinne De Laet
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 316-321 (2022)
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 oligos
Externí odkaz:
https://doaj.org/article/3eddfc09a27d4de09dbdb253f57db9a9
