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Journal: Genes, 2025
Volume: 16
Number: 982

Article: A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings
Authors: by Qiang Guo, Thilo Löhr, Patrick Giavalisco, Vera Riehmer and Hans Zempel
Link: https://www.mdpi.com/2073-4425/16/8/982

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