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Studies on cultured fibroblasts from patients with defects of biotin‐dependent carboxylation
Author(s) -
Bartlett K.,
Ng H.,
Dale G.,
Green A.,
Leonard J. V.
Publication year - 1981
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/bf02263649
Subject(s) - biotin , carboxylation , human genetics , metabolic disease , fibroblast , biochemistry , biology , chemistry , medicine , genetics , cell culture , endocrinology , gene , catalysis
Seven patients with inborn defects of biotin‐dependent enzymes are described. The results of studies of fibroblast carboxylases and an account of the problems associated with their measurement are given.