Article
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Pediatric neurology - 1 Sept 2017
Barmherzig Rebecca, Bullivant Garrett, Cordeiro Dawn, Sinasac David S, Blaser Susan, Mercimek-Mahmutoglu Saadet
Abstract excerpt
BACKGROUND: Likely pathogenic variants in SLC17A5 results in allelic disorders of free sialic acid metabolism including (1) infantile free sialic acid storage disease with severe global developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; (2) intermediate severe Salla disease with moderate to severe global developmental delay, hypotonia, and hypomyelination with or without coarse...
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