| Literature DB >> 6616883 |
D T Whelan, R E Hill, S McClorry.
Abstract
Two siblings are described who present with fumaric aciduria, a hitherto unreported organic aciduria. The results of our analytical investigations using gas chromatography/mass spectrometry, and the clinical presentation of the patients, are consistent with the notion that the fumaric aciduria is caused by an inherited defect which leads to a net secretion of fumaric acid by the renal tubules.Entities:
Mesh：
Substances：
Year: 1983 PMID： 6616883 DOI： 10.1016/0009-8981(83)90008-6
Source DB: PubMed Journal: Clin Chim Acta ISSN： 0009-8981 Impact factor: 3.786