2. Academic Validation
  3. Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment

  • Clin Chim Acta. 1983 Aug 31;132(3):301-8. doi: 10.1016/0009-8981(83)90008-6.
D T Whelan,  R E Hill,  S McClorry
PMID: 6616883 DOI: 10.1016/0009-8981(83)90008-6
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.

Figures
Products
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z