Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage disease (ISSD) could represent allelic disorders, despite their drastically different clinical phenotypes. SD and ISSD are both characterized by lysosomal storage of free N-acety...

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Autores principales: Schleutker, J, Leppänen, P, Månsson, J E, Erikson, A, Weissenbach, J, Peltonen, L, Aula, P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801488/
https://ncbi.nlm.nih.gov/pubmed/7573051
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