Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment
DT Whelan, RE Hill, S McClorry�- Clinica chimica acta, 1983 - Elsevier
DT Whelan, RE Hill, S McClorry
Clinica chimica acta, 1983•ElsevierTwo 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.
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.
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.
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