Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (<sup>1</sup>H MRS) findings in a fourth case of combined <scp>D</scp>‐ and <scp>L</scp>‐2 hydroxyglutaric aciduria - Concepedia

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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (<sup>1</sup>H MRS) findings in a fourth case of combined <scp>D</scp>‐ and <scp>L</scp>‐2 hydroxyglutaric aciduria

DOI Full Paper Access

19

Citations

3

References

2005

Year

M. Read, C. Bonamy, D Laloum, F. Belloy, Jean‐Marc Constans, B. Guillois, Marie‐Laure Kottler, Nanda M. Verhoeven, C. Jakobs

Journal of Inherited Metabolic Disease

Abstract

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

References

	Year	Citations

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