Literature DB >> 11432966

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.

W L Hwu, K Kobayashi, Y H Hu, N Yamaguchi, T Saheki, S P Chou, J H Wang.   

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Year:  2001        PMID： 11432966      PMCID： PMC1757188          DOI： 10.1136/jmg.38.7.e23

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Authors:  Yao Bang Lu; Keiko Kobayashi; Miharu Ushikai; Ayako Tabata; Mikio Iijima; Meng Xian Li; Lei Lei; Kotaro Kawabe; Satoru Taura; Yanling Yang; Tze-Tze Liu; Szu-Hui Chiang; Kwang-Jen Hsiao; Yu-Lung Lau; Lap-Chee Tsui; Dong Hwan Lee; Takeyori Saheki
Journal:  J Hum Genet       Date:  2005-07-30       Impact factor: 3.172

Review 2.  Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Authors:  Takeyori Saheki; Keiko Kobayashi; Mikio Iijima; Ikumi Nishi; Tomotsugu Yasuda; Naoki Yamaguchi; Hong Zhi Gao; Md Abdul Jalil; Laila Begum; Meng Xian Li
Journal:  Metab Brain Dis       Date:  2002-12       Impact factor: 3.584

3.  Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Authors:  Ayako Tabata; Jian-Sheng Sheng; Miharu Ushikai; Yuan-Zong Song; Hong-Zhi Gao; Yao-Bang Lu; Fumihiko Okumura; Mikio Iijima; Kozo Mutoh; Shosei Kishida; Takeyori Saheki; Keiko Kobayashi
Journal:  J Hum Genet       Date:  2008-04-05       Impact factor: 3.172

Review 4.  AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.

Authors:  Takeyori Saheki; Mitsuaki Moriyama; Aki Funahashi; Eishi Kuroda
Journal:  Biomolecules       Date:  2020-07-24

5.  Reduced carbohydrate intake in citrin-deficient subjects.

Authors:  T Saheki; K Kobayashi; M Terashi; T Ohura; Y Yanagawa; Y Okano; T Hattori; H Fujimoto; K Mutoh; Z Kizaki; A Inui
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.750
  5 in total

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