Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal
recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal …

Background Sialic acid storage diseases are neurodegenerative disorders characterized by
accumulation of sialic acid in the lysosome. These disorders are caused by mutations in …

The allelic autosomal recessive lysosomal storage disorders Salla disease and infantile free
sialic acid storage disease (ISSD) result from mutations in SLC17A5. This gene codes for …

Lysosomal free sialic acid storage diseases are recessively inherited allelic
neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage …

Lysosomal free sialic acid–storage diseases include the allelic disorders Salla disease (SD)
and infantile sialic acid–storage disease (ISSD). The defective gene, SLC17A5, coding for …

The objective of this article is to describe the clinical, radiographic, and molecular genetic
features of a new intermediate form of free sialic storage disease. Free sialic storage …

Purpose Quantitative definition of the natural history of free sialic acid storage disease
(SASD, OMIM 604369), an orphan disorder due to the deficiency of the proton-driven carrier …

Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders
resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was …

Salla disease and infantile sialic acid storage disorder are autosomal recessive
neurodegenerative diseases characterized by loss of a lysosomal sialic acid transport …

Salla disease (SD) and infantile sialic acid storage disease (ISSD) are recessively inherited,
neuro-degenerative disorders caused by mutations in the SLC17A5 gene. The gene …