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
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
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.
Alfarsi A et al.
Molecular Genetics and Metabolism Reports, 2021
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Staretz-Chacham O et al.
Nutrients, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.
Szabo E et al.
Human Molecular Genetics, 2019
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
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics.
Al-Jasmi F et al.
Molecular Genetics and Metabolism, 2011
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
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