Associated Papers
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
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
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
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Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Quinonez SC et al.
Pediatric Neurology, 2013
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T et al.
Journal of Inherited Metabolic Disease, 2012
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
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
Cerna L et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 0
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