Associated Papers
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.
Haham Zarbib Y et al.
Antioxidants (basel, Switzerland), 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
Hammann N et al.
Journal of Inherited Metabolic Disease, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B et al.
Journal of Inherited Metabolic Disease, 2024
Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase.
Szabo E et al.
International Journal of Molecular Sciences, 2023
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Staretz-Chacham O et al.
Nutrients, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
Haviv R et al.
European Journal of Pediatrics, 2014
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Quinonez SC et al.
Pediatric Neurology, 2013
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Quintana E et al.
Journal of Inherited Metabolic Disease, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Scott SA et al.
Human Mutation, 2010
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
Cameron JM et al.
American Journal of Medical Genetics. Part A, 2006
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH et al.
Human Mutation, 2005
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Grafakou O et al.
European Journal of Pediatrics, 2003
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
Shaag A et al.
American Journal of Medical Genetics, 1999
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
Elpeleg ON et al.
Human Mutation, 1997
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
Hong YS et al.
Human Molecular Genetics, 1996