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Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3‐hydroxyacyl‐CoA dehydrogenase deficiency
Author(s) -
Döbeln U.,
Venizelos N.,
Westgren M.,
Hagenfeldt L.
Publication year - 1994
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/bf00711615
Subject(s) - chorionic villi , fetus , prenatal diagnosis , liver biopsy , dehydrogenase , pregnancy , endocrinology , medicine , biopsy , biology , enzyme , biochemistry , genetics
Summary Prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.