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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

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 · 2005 · 19 citations · 3 references

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Abstract

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

References

3

Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias

K. Michael Gibson, H.J. ten Brink, D. S. M. Schor et al. · Pediatric Research · 1993 · 123 citations

, , +9

D‐2‐Hydroxyglutaric aciduria: Further clinical delineation

Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann et al. · Journal of Inherited Metabolic Disease · 1999 · 86 citations

, , +9

Combined D-2- and L-2-Hydroxyglutaric Aciduria with Neonatal Onset Encephalopathy: A Third Biochemical Variant of 2-Hydroxyglutaric Aciduria?

Ania C. Muntau, Wulf Röschinger, Andreas Merkenschlager et al. · Neuropediatrics · 2000 · 65 citations

, , +10