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  • Title: Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
    Author: Kleijer WJ, Geilen GC, Van Diggelen OP, Wevers RA, Los FJ.
    Journal: Prenat Diagn; 1992 Oct; 12(10):841-3. PubMed ID: 1475254.
    Abstract:
    Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.
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