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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.

Journal of inherited metabolic disease (2006-01-26)
M-H Read, C Bonamy, D Laloum, F Belloy, J M Constans, B Guillois, M-L Kottler, N M Verhoeven, C Jakobs
ABSTRACT

We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Ethylmalonic acid, 97%