title: Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
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.
authors: Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors: W J
authors: WJ
authors: Kleijer
authors: G C
authors: GC
authors: Geilen
authors: O P
authors: OP
authors: Van Diggelen
authors: R A
authors: RA
authors: Wevers
authors: F J
authors: FJ
authors: Los
mesh_terms: D000649:Amniocentesis; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008361:Mannosidases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology; D044902:beta-Mannosidase
chemical_list: D008361:Mannosidases; D044902:beta-Mannosidase