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Article

[Prenatal diagnosis of Gaucher disease].

La Revue de medecine interne - 1 Oct 2007

Germain D P, Benistan K

Abstract excerpt

Gaucher disease (GD, OMIM #230800, 230900, 231000) is a lysosomal surcharge disorder caused by a deficiency in glucocerebrosidase, a lysosomal enzyme also referred to as acid beta-glucosidase or, in rare cases, by a deficiency in the activator protein saposin C. Partial deficiency of acid beta-glucosidase is associated with the presence of glucosylceramide, also known as glucocerebroside (Gb1), deposits in the...

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Identifiers

PMID: 18240370
DOI: 10.1016/s0248-8663(07)78881-1

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