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Autor:
Jaclyn Cadaoas, Rosario Mosca, Alessandra d'Azzo, Camilo Toro, Cynthia J. Tifft, Emil D. Kakkis, Vish Koppaka, Diantha van de Vlekkert, Simona Allievi, Leigh E. Fremuth, Ida Annunziata, Yvan Campos, Cinzia Gellera, Laura Canafoglia, Gepke Visser
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 3, p 695 (2020)
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 695
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 695
Journal of Clinical Medicine
Congenital deficiency of the lysosomal sialidase neuraminidase 1 (NEU1) causes the lysosomal storage disease, sialidosis, characterized by impaired processing/degradation of sialo-glycoproteins and sialo-oligosaccharides, and accumulation of sialylat