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Case Reports
. 2001 May;138(5):741-3.
doi: 10.1067/mpd.2001.113361.

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

T Tomomasa  1 , K Kobayashi, H Kaneko, H Shimura, T Fukusato, M Tabata, Y Inoue, S Ohwada, M Kasahara, Y Morishita, M Kimura, T Saheki, A Morikawa
Affiliations
Case Reports

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

T Tomomasa et al. J Pediatr. 2001 May.

Abstract

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.

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