Article
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
Molecular genetics and metabolism - 1 Jan 2013
Lee Beom Hee, Kim Yoo-Mi, Heo Sun Hee, Kim Gu-Hwan, Choi In-Hee, Lee Byong Sop, Kim Ellen Ai-Rhan, Kim Ki-Soo, Jhang Won Kyoung, Park Seong Jong, Yoo Han-Wook
Abstract excerpt
Type 1 citrullinemia (CTLN1) often presents as a hyperammonemic encephalopathy in the neonatal period, but it can also develop in the late-infantile period and in adults. In addition, some patients can be identified in the presymptomatic period by neonatal or family member screening. In this study, twenty Korean patients with CTLN1 (19 families) were examined; fourteen patients with neonatal-onset, three with...
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