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Familial encephalopathy andl-2-hydroxyglutaric aciduria

โœ Scribed by N. Kaabachi; A. Larnaout; D. Rabier; C. Jakobs; S. Belal; F. Hentati; P. Parvey; J. Bardet; M. Ben Hamida; A. Mebazaa; P. Kamoun


Publisher
Springer
Year
1993
Tongue
English
Weight
73 KB
Volume
16
Category
Article
ISSN
0141-8955

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D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting

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