Number of the records: 1

choroba z ukladania kyseliny sialovej

Subject h.	choroba z ukladania kyseliny sialovej
Subject h.	Sialic Acid Storage Disease
Entry terms	ochorenie z ukladania kyseliny sialovej poruchy z ukladania kyseliny sialovej choroba z ukladania kyseliny sialovej, novorodenecká choroba z ukladania kyseliny sialovej, infantilná choroba z ukladania kyseliny sialovej, fínsky typ choroba z ukladania kyseliny sialovej, infantilná forma choroba z ukladania kyseliny sialovej, novorodenecká forma sialúria sialúria, fínsky typ sialúria, infantilná forma sialúria, novorodenecká forma
English X references	Infantile Sialic Acid Storage Disease Salla Disease Sialic Acid Storage Disease, Finnish Type Sialic Acid Storage Disease, Infantile Form Sialuria Sialuria, Finnish Type Sialuria, Infantile Form
Scope note in English	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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Number of the records: 1