NEU1 and lysosomal storage disease: Gene panel sequencing for lysosomal storage diseases detected a heterozygous NEU1 pathogenic mutation (NM_000434.3(NEU1):c.599C>T; p.(Pro200Leu), with a GnomAD allele frequency of 0.0009%, already described in patients with sialidosis,8 together with a NEU1 heterozygous variant of uncertain clinical significance {(NM_000434.3(NEU1):c.353‐11A>G; p.)?