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Pyruvate dehydrogenase "E3-binding" protein deficiency
- ... Registry: Pyruvate dehydrogenase E2 deficiency Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency Pyruvate ...
- ... Gene ClinVar Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet. 2002 Feb;110(2):187-91. ... Raiman JA, Walter JH, Whitehouse WP, Brown GK. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. Dev Med Child Neurol. 2006 Sep;48(9): ...
