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Results 1 - 10 of 14 for Pyruvate dehydrogenase complex deficiency
  1. Pyruvate dehydrogenase deficiency 
    ... with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency Pyruvate dehydrogenase complex deficiency Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency Genetic ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. PDHA1 gene 
    ... Central Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman ... Brivet M. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  3. DLAT gene 
    ... ClinVar Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman ... PT, Brown GK. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug; ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  4. PDHB gene 
    ... PubMed Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman ... E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371- ...
    https://medlineplus.gov/genetics/gene/pdhb - Genetics
  5. PDHX gene 
    ... PubMed Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/pdhx - Genetics
  6. PDP1 gene 
    ... PubMed Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) ... dehydrogenase phosphatase deficiency: identification of the first mutation ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics
  7. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  8. Carbohydrate Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/carbohydratemetabolismdisorders.html - Health Topics
  9. DLD gene 
    ... components with the core proteins of the human pyruvate dehydrogenase complex. J Mol ... dehydrogenase deficiency. Biochem Biophys Res Commun. 2000 Mar 16;269( ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
  10. Dihydrolipoamide dehydrogenase deficiency 
    ... Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. ... dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
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