A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.
- DOI
- 10.3390/genes16080982
- Published
- 2025 Aug 20
- Container
- Genes
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3390/genes16080982,
title = {A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.},
author = {Guo Q and Löhr T and Giavalisco P and Riehmer V and Zempel H},
year = {2025},
journal = {Genes},
doi = {10.3390/genes16080982},
url = {https://doi.org/10.3390/genes16080982}
}RIS
TY - JOUR TI - A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings. AU - Guo Q AU - Löhr T AU - Giavalisco P AU - Riehmer V AU - Zempel H PY - 2025 JO - Genes DO - 10.3390/genes16080982 UR - https://doi.org/10.3390/genes16080982 ER -
APA
Q, G., T, L., P, G., V, R., & H, Z. (2025). A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.. Genes. https://doi.org/10.3390/genes16080982
Source records
- pubmed · retrieved 2026-09-25T20:38:01.692Z