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
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B et al.
Journal of Inherited Metabolic Disease, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Staretz-Chacham O et al.
Nutrients, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease.
Csaban D et al.
Life (basel, Switzerland), 2021
Recurrent Liver Failure in an 11-Year-Old Boy.
Neveu J et al.
Clinical Chemistry, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
Haviv R et al.
European Journal of Pediatrics, 2014
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Quinonez SC et al.
Molecular Genetics and Metabolism Reports, 2014
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A et al.
Molecular Genetics and Metabolism, 2013
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
The alpha-ketoglutarate dehydrogenase complex.
Sheu KF et al.
Annals of the New York Academy of Sciences, 1999