Article
Exploring genetic modifiers of Gaucher disease: The next horizon.
Human mutation - 1 Dec 2018
Davidson Brad A, Hassan Shahzeb, Garcia Eric Joshua, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase. Accumulation of the enzyme's substrates, glucosylceramide and glucosylsphingosine, results in symptoms ranging from skeletal and visceral involvement to neurological manifestations. Nonetheless, there is significant variability in clinical...
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