Associated Papers
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Stowe RC et al.
American Journal of Medical Genetics. Part A, 2018
Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings.
Taché V et al.
Case Reports in Obstetrics and Gynecology, 2016
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