Title : Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Pub. Date : 2011 Dec

PMID : 21982627






1 Functional Relationships(s)
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1 beta-glucocerebrosidase, the enzyme deficient in Gaucher disease, also has an essential role in maintaining epidermal permeability function, by regulating the ratio of ceramides to glucosylceramides in the stratum corneum of the skin. Ceramides glucosylceramidase beta Homo sapiens