Free Sialic Acid Storage Disease

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

GNE, SLC17A5, CLTA, MATN1, RENBP, ATP7A, CHIT1, EPO, GH1, LSAMP, LAMP3

Drugs

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Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).