SIALURIAS
\sˌa͡ɪəlˈʊ͡əɹi͡əz], \sˌaɪəlˈʊəɹiəz], \s_ˌaɪ_ə_l_ˈʊə_ɹ_iə_z]\
Sort: Oldest first
-
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
By DataStellar Co., Ltd
