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Neonatal multiple acyl‐CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts
Author(s) -
Ip W. C.,
Hammond J. W.,
Wilcken B.
Publication year - 1996
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/bf01799277
Subject(s) - medicine , proband , genetics , biology , gene , mutation