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Intermittent non‐ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: An apparent defect in β‐oxidation of fatty acids
Author(s) -
Naylor E. W.,
Mosovich L. L.,
Guthrie R.,
Evans J. E.,
Tieckelmann H.
Publication year - 1980
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/bf02312518
Subject(s) - endocrinology , medicine , metabolic disease , chemistry , pediatrics , biochemistry
Two siblings with intermittent hypoglycaemia, lethargy and coma associated with fatty infiltration of the liver are reported. Urine contained C 6 to C 14 ‐dicarboxylic acids.
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