D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis


D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia… (More)
DOI: 10.1007/s002560050611


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@article{Talkhani2000D2hydroxyglutaricAI, title={D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis}, author={Imtiyaz Talkhani and Jackie Saklatvala and J. P. O ’ Dwyer}, journal={Skeletal Radiology}, year={2000}, volume={29}, pages={289-292} }