The remaining six patients, not described in the literature, carry novel NEU1 mutations (p.Ala167Val, p.Tyr268Cys, p.Ser410Arg-fs), as well as a splice variant G > A at intron 3 + (g.1635G > A-fs), five of which in compound heterozygosity with mutations shared by other sialidosis patients (Figure 1B). The gene discussed is NEU1; the disease is sialidosis.