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pro vyhledávání: '"Halil Saglam PhD"'
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
