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pro vyhledávání: '"Gillian Tracy Riordan"'
Autor:
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100629- (2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gen
Externí odkaz:
https://doaj.org/article/62da609519d049c487e202f93647ff04
