Associated Papers
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Staretz-Chacham O et al.
Nutrients, 2021
[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].
Wu S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
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
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Quinonez SC et al.
Molecular Genetics and Metabolism Reports, 2014
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Quinonez SC et al.
Pediatric Neurology, 2013
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