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Related to Salla disease: infantile free sialic acid storage disease
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Sialic acid accumulated in the cell is stored as free sialic acid as observed in Salla disease and infantile sialic acid storage disease or accumulates as bound to other glycopeptides or oligosaccharides as observed in sialidosis.
Our most recent study using GeneChip arrays took less than one month to complete and cost less than $4,000 dollars to make a definitive diagnosis of Salla disease," said Strauss.