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Autor:
Radwa Gamal, George Priya Doss C, Shaima A Elashi, Osama K. Zaki, Heba S A El Abd, Bilal N Nasr, Thirumal Kumar D, Maryam S A Ebnou, Hatem Zayed, Salsabil A Ali, Ghadeer G Murad, Ola Khalifa
Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c379b458a2337707f832266f5b439f
https://hdl.handle.net/10576/5683
https://hdl.handle.net/10576/5683