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    Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

    Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indi...

    Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave… in JIMD Reports, Volume 35 (2017)