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A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.

Medical science monitor : international medical journal of experimental and clinical research - 1 Feb 2006

Takahashi Hirohide, Kagawa Tatehiro, Kobayashi Keiko, Hirabayashi Hisayuki, Yui Mizuho, Begum Laila, Mine Tetsuya, Takagi Shigeharu, Saheki Takeyori, Shinohara Yukito

Abstract excerpt

BACKGROUND: Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia. Factors affecting disease progression remain unknown. We report a case with CTLN2, whose clinical course was rapidly worsened by the administration of Glyceol, a hyperosmotic diuretic solution consisting...

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PMID: 16449956

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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