L-2-Hydroxyglutaric Aciduria Latest Advances

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.

Journal: Genes

Published: July 23, 2025

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Journal: Journal of applied genetics

Published: February 05, 2025

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

L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

Journal: Neurocase

Published: May 25, 2024

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

L-2-Hydroxyglutaric Aciduria Latest Advances

Find the Latest Research About L-2-Hydroxyglutaric Aciduria

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment

A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.

Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.

Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.

Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.

A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.

A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.

Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.

Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.