Associated Papers
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P et al.
British Journal of Biomedical Science, 2022
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Giribaldi G et al.
Developmental Medicine and Child Neurology, 2012
Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.
Sato S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Naito E et al.
Biochimica Et Biophysica Acta, 2002
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Naito E et al.
Journal of the Neurological Sciences, 2002
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
Jauhari P et al.
Journal of Pediatric Neurosciences, 0
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