title: First-trimester enzyme exclusion of Farber disease using a micromethod with [3H]ceramide.
abstract: Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.
authors.affiliation: Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors.forename: V S
authors.initials: VS
authors.lastname: Akhunov
authors.forename: S S
authors.initials: SS
authors.lastname: Gargaun
authors.forename: X D
authors.initials: XD
authors.lastname: Krasnopolskaya
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000378:metabolism; D055572:Ceramidases; D002518:Ceramides / Q000378:metabolism*; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008832:Microchemistry; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014316:Tritium
chemical_list: D002518:Ceramides; D014316:Tritium; D000581:Amidohydrolases; D055572:Ceramidases