L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

Summary l -2-hydroxyglutaric aciduria ( l -2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat var...

Ausführliche Beschreibung