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

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

L-2-Hydroxyglutaric Aciduria Complicated by Cerebral Neoplasm.

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].

Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.

The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia.

Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.

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

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

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

Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review.

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

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

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

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

L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum.

An enzymic l-2-hydroxyglutarate biosensor based on l-2-hydroxyglutarate dehydrogenase from Azoarcus olearius.

Loss of the mitochondrial carrier, SLC25A1, during embryogenesis induces a unique senescence program controlled by p53.

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria.

L-2-hydroxyglutaric aciduria - review of literature and case series.

Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.

A novel homozygous missense mutation in L-2-HGA gene: A case report.

L-2-Hydroxyglutaric Acid Administration to Neonatal Rats Elicits Marked Neurochemical Alterations and Long-Term Neurobehavioral Disabilities Mediated by Oxidative Stress.

Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.

Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria.

The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults.

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.

[A pedigree of L-2-hydroxyglutaric aciduria including 3 patients caused by homozygous L2HGDH variant].

Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.

Inborn errors of metabolite repair.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.

Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria.

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation.

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Experimental Evidence that In Vivo Intracerebral Administration of L-2-Hydroxyglutaric Acid to Neonatal Rats Provokes Disruption of Redox Status and Histopathological Abnormalities in the Brain.

Flux analysis of inborn errors of metabolism.

Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].

Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.

An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.

Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner?

Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers.

MRI features in 17 patients with l2 hydroxyglutaric aciduria.

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.

Inherited metabolic disorders in Turkish patients with autism spectrum disorders.

Gliomatosis cerebri in L-2-hydroxyglutaric aciduria.

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

In vivo intracerebral administration of L-2-hydroxyglutaric acid provokes oxidative stress and histopathological alterations in striatum and cerebellum of adolescent rats.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.