Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder
Pınar Gelener, Mariasavina Severino, Sevda Diker, Kerem Teralı, Gülten Tuncel, Hatice Tuzlalı, Elena Manara, Stefano Paolacci, Matteo Bertelli, Mahmut Çerkez Ergören
Topics & Concepts
Glutaric acidPediatricsCompound heterozygosityMedicineLeukoencephalopathyInternal medicineEndocrinologyPathologyBiologyGeneticsAlleleDiseaseBiochemistryGeneMetabolism and Genetic DisordersBiochemical and Molecular ResearchAmino Acid Enzymes and Metabolism