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Results 1 - 7 of 7 for Pyruvate dehydrogenase E3 deficiency
  1. ... syrup urine disease, type III Genetic Testing Registry: Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency National Organization for Rare ...
  2. ... Registry: Pyruvate dehydrogenase E2 deficiency Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency Pyruvate ...
  3. ... 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): ...
  4. ... PT, Brown GK. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: ... S. Interaction of E1 and E3 components with the core proteins of the human ...
  5. ... alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:33.0.CO;2-K. Citation on PubMed Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human ...
  6. ... E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. Citation on PubMed Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human ...
  7. ... Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins ... dehydrogenase deficiency. Biochem Biophys Res Commun. 2000 Mar 16;269( ...