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First‐trimester enzyme exclusion of farber disease using a micromethod with [ 3 H]ceramide
Author(s) -
Akhunov V. S.,
Gargaun S. S.,
Krasnopolskaya X. D.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02436007
Subject(s) - enzyme , ceramide , human genetics , metabolic disease , medicine , disease , chemistry , biochemistry , endocrinology , gene , apoptosis
Summary Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [ 3 H]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.
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