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Pyruvate dehydrogenase "E1-alpha" deficiency
- ... Registry: Pyruvate dehydrogenase complex deficiency Genetic Testing Registry: Pyruvate dehydrogenase E1-alpha deficiency Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency ...
- ... alpha, somatic form, mitochondrial Tests of PDHA1 PubMed PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1; PDHA1 ...
- The PDHB gene provides instructions for making a protein called E1 beta. E1 beta is a piece (a subunit) of a larger protein: two E1 beta proteins combine ...