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Antenatal diagnosis of propionic acidaemia by methylcitrate determination
Author(s) -
Dhondt J. L.,
Farriaux J. P.,
Amedee Manesme O.,
Cartigny B.,
Sweetman L.,
Duran M.
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/bf02263585
Subject(s) - medicine , human genetics , metabolic disease , pediatrics , intensive care medicine , chemistry , biochemistry , gene
Antenatal diagnosis of a case of propionic acidaemia was rapidly achieved by measuring the methylcitrate concentration in amniotic fluid.