title: First trimester diagnosis of Wolman's disease.
abstract: Wolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi. The diagnosis was confirmed by studies on cultured chorionic villus cells and fetal skin fibroblasts. Acid lipase activity was assayed with both 4-methylumbelliferyl-palmitate and radiolabelled cholesterol oleate as substrates. The higher specificity of the enzyme for the latter, natural, substrate makes it superior in prenatal diagnosis.
authors.affiliation: Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: H
authors.initials: H
authors.lastname: von Koskull
authors.forename: P
authors.initials: P
authors.lastname: Ammälä
authors.forename: G T
authors.initials: GT
authors.lastname: Vredeveldt
authors.forename: H C
authors.initials: HC
authors.lastname: Janse
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D008049:Lipase / Q000172:deficiency; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015223:Wolman Disease / Q000175:diagnosis*
chemical_list: D008049:Lipase