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Evidence for heterogeneous SO2 oxidation in Ljubljana, Yugoslavia

✍ Scribed by M. Bizjak; V. Hudnik; A.D.A. Hansen; T. Novakov

Book ID
113122829
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
466 KB
Volume
20
Category
Article
ISSN
0004-6981

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We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH)