Associated Papers
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.
Haham Zarbib Y et al.
Antioxidants (basel, Switzerland), 2025
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.
Sprecher U et al.
Molecular Genetics and Metabolism Reports, 2025
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B et al.
Journal of Inherited Metabolic Disease, 2024
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
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