Article
Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.
Journal of inherited metabolic disease - 1 Dec 2010
San Millan Beatriz, Teijeira Susana, Domínguez Carmen, Vieitez Irene, Navarro Carmen
Abstract excerpt
OBJECTIVE: To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease). METHODS: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three cons...
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