- A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation
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Kim JH, Park KW, Park CJ, Sun GH, Kim HH, Kim SY, Bae HY, Cho EH, Yang SH
- KMID: 2391909
- J Korean Endocr Soc.
- 2006 Dec;21(6):542-547.
Adult onset type II citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at... -
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