Comparison between dichloroacetate and phenylbutyrate treatment for pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. The PDHA1 gene encodes one of the subunits of the PDH enzyme found in a carbohydrate metabolism pathway involved in energy production. Pathogenic variants of PDHA1 ge...
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Main Authors: | , , , , , , , , |
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Format: | Article |
Published: |
Frontiers Media SA
2022
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Subjects: | |
Online Access: | http://eprints.um.edu.my/42179/ |
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Institution: | Universiti Malaya |