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Profound neurological presentation resulting from homozygosity for a mild glutaryl‐CoA dehydrogenase mutation with a minimal biochemical phenotype
Author(s) -
Treacy E. P.,
LeeChong A.,
Roche G.,
Lynch B.,
Ryan S.,
Goodman S.
Publication year - 2003
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 - 10.1023/a:1024087832406
Subject(s) - medicine , presentation (obstetrics) , neurology , pediatrics , family medicine , psychiatry , surgery
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