FINNISH TYPE SIALURIAS
\fˈɪnɪʃ tˈa͡ɪp sˌa͡ɪəlˈʊ͡əɹi͡əz], \fˈɪnɪʃ tˈaɪp sˌaɪəlˈʊəɹiəz], \f_ˈɪ_n_ɪ_ʃ t_ˈaɪ_p s_ˌaɪ_ə_l_ˈʊə_ɹ_iə_z]\
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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.
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Platidiam
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