Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Louisa Ntombenhle Bhengu"'
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
Autor:
Carl Fratter, Surita Meldau, Gillian Riordan, Kate Sergeant, Kashief Khan, Louisa Ntombenhle Bhengu, Peter Berman
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100629-(2020)
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 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4edf9a1b58c2acc5cf99850c4359e39
http://europepmc.org/articles/PMC7387837
http://europepmc.org/articles/PMC7387837