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pro vyhledávání: '"Elsayed Abdelkreem MD"'
Autor:
Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency
Externí odkaz:
https://doaj.org/article/1f6beff17898491787ca450ad33d0315
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