Pathogenesis and Management of Citrin Deficiency
Author:
Affiliation:
1. Department of Pediatrics, Yamagata University School of Medicine, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_2595-23/_pdf
Reference51 articles.
1. 1. Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 22: 159-163, 1999.
2. 2. Saheki T, Song YZ. Citrin deficiency. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., Eds. University of Washington, Seattle, 1993-2023.
3. 3. Miyakoshi T, Takahashi T, Kato M, Watanabe M, Ito C. Abnormal citrulline metabolism of Inose-type hepatocerebral disease. Shinkei Kagaku 7: 88-91, 1968 (in Japanese).
4. 4. Palmieri L, Pardo B, Lasorsa FM, et al. Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J 20: 5060-5069, 2001.
5. 5. Hayasaka K. Metabolic basis and treatment of citrin deficiency. J Inherit Metab Dis 44: 110-117, 2020.
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