A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
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Full Title: Metab Brain Dis
Abbreviation: Metab Brain Dis
Country: Unknown
Publisher: Unknown
Language: N/A
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"Declarations Ethics approval and consent to participateThe present molecular study was approved by the institutional ethical review board of Gomal University D.I.Khan (IRB# 04/ ERB/GU), and Kohat University of Science and Technology, Kohat, Pakistan. Consent to PublishThe patient’s guardians have given their consent to publish their clinical information and photographs. Conflict of interest/ Competing interestsNone declare by all authors. Conflict of interest/ Competing interests None declare by all authors."
"Funding The current study was supported through an HEC Pakistan funded “NRPU grant (5564/KPK/NRPU/R&D/HEC/2016)”."
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Last Updated: Aug 05, 2025