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Last Updated: 10/31/2025
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Found 86 publications
A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment
Journal: Rinsho shinkeigaku = Clinical neurology
Published: January 29, 2025
Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 09, 2025
Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.
Journal: Virchows Archiv : an international journal of pathology
Published: May 22, 2024
Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
Journal: Saudi medical journal
Published: March 03, 2024
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Journal: Molecular genetics and metabolism
Published: February 01, 2024
L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: December 21, 2023
Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.
Journal: Stereotactic and functional neurosurgery
Published: November 01, 2023
Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.
Journal: The Journal of biological chemistry
Published: September 11, 2023
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.
Journal: American journal of medical genetics. Part A
Published: September 07, 2023
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
Journal: Acta neurologica Belgica
Published: August 15, 2023
Last Updated: 10/31/2025