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pro vyhledávání: '"Elsayed Abdelkreem MD, MSc"'
Autor:
Elsayed Abdelkreem MD, MSc, Hiroki Otsuka MD, Hideo Sasai MD, Yuka Aoyama PhD, Tomohiro Hori MD, PhD, Mohamed Abd El Aal MD, PhD, Shaimaa Mahmoud MD, PhD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, sever
Externí odkaz:
https://doaj.org/article/c0064487a6c6417c9e30477d4be23c8e
