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Pyruvate dehydrogenase complex deficiency
- ... with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency Pyruvate dehydrogenase complex deficiency Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency Genetic ...
- ... 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 ...
- ... 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; ...
- ... 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- ...
- ... PubMed Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman ...
- ... 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, Bean LJH, Gripp KW, Amemiya A, editors. ... dehydrogenase phosphatase deficiency: identification of the first mutation ...
- ... components with the core proteins of the human pyruvate dehydrogenase complex. J Mol ... dehydrogenase deficiency. Biochem Biophys Res Commun. 2000 Mar 16;269( ...
- ... Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. ... dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). ...
- ... glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or ... scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...
- ... glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate ... genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...