MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1
Sialic Acid Storage Disease - 새창
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.
Synonyms : Finnish Type Sialuria, Finnish Type Sialurias, Infantile Form Sialuria, Infantile Form Sialurias, Sialurias, Sialurias, Finnish Type, Sialurias, Infantile Form
Sialic Acids - 새창
A group of naturally occurring N-and O-acyl derivatives of the deoxyamino sugar neuraminic acid. They are ubiquitously distributed in many tissues.
Synonyms : Acids, N-Acetylneuraminic, Acids, Sialic, N Acetylneuraminic Acids
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MeSH(Medical Subject Headings) 유사 검색 (http://www.nlm.nih.gov) 결과 : 0 페이지: 1
