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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
Author / Creator:Saheki, T. ; Kobayashi, K.
Publisher:Tokyo: Springer-Verlag
Journal title:Journal of human genetics, 2002-07, Vol.47 (7), p.333-341
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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Author / Creator:Lu, Yao Bang ; Kobayashi, Keiko ; Ushikai, Miharu ; Tabata, Ayako ; Iijima, Mikio ; Li, Meng Xian ; Lei, Lei ; Kawabe, Kotaro ; Taura, Satoru ; Yang, Yanling ; Liu, Tze-Tze ; Chiang, Szu-Hui ; Hsiao, Kwang-Jen ; Lau, Yu-Lung ; Tsui, Lap-Chee ; Lee, Dong Hwan ; Saheki, Takeyori
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2005-07, Vol.50 (7), p.338-346
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AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures
Author / Creator:Saheki, Takeyori ; Moriyama, Mitsuaki ; Funahashi, Aki ; Kuroda, Eishi
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2020-07, Vol.10 (8), p.1100
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Adult-onset type II citrullinemia: Current insights and therapy
Author / Creator:Hayasaka, Kiyoshi ; Numakura, Chikahiko
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2018-01, Vol.11, p.163-170
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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
Author / Creator:Tabata, Ayako ; Sheng, Jian-Sheng ; Ushikai, Miharu ; Song, Yuan-Zong ; Gao, Hong-Zhi ; Lu, Yao-Bang ; Okumura, Fumihiko ; Iijima, Mikio ; Mutoh, Kozo ; Kishida, Shosei ; Saheki, Takeyori ; Kobayashi, Keiko
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2008-06, Vol.53 (6), p.534-545
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A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine
Author / Creator:Yazaki, Masahide ; Kinoshita, Michiaki ; Ogawa, Shinji ; Fujimi, Satoshi ; Matsushima, Akira ; Hineno, Akiyo ; Tazawa, Ko-ichi ; Fukushima, Kazuhiro ; Kimura, Ryo ; Yanagida, Makoto ; Matsunaga, Hidenori ; Saheki, Takeyori ; Ikeda, Shu-ichi
Publisher:Netherlands: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2013-08, Vol.115 (8), p.1542-1545
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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosi...
Author / Creator:Yamaguchi, Naoki ; Kobayashi, Keiko ; Yasuda, Tomotsugu ; Nishi, Ikumi ; Iijima, Mikio ; Nakagawa, Masanori ; Osame, Mitsuhiro ; Kondo, Ikuko ; Saheki, Takeyori
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2002-02, Vol.19 (2), p.122-130
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Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate–glutamate carrier) deficiency
Author / Creator:Saheki, Takeyori ; Kobayashi, Keiko ; Iijima, Mikio ; Nishi, Ikumi ; Yasuda, Tomotsugu ; Yamaguchi, Naoki ; Gao, Hong Zhi ; Jalil, Md. Abdul ; Begum, Laila ; Li, Meng Xian
Publisher:United States: Springer Nature B.V
Journal title:Metabolic brain disease, 2002-12, Vol.17 (4), p.335-346
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Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia
Author / Creator:Hayasaka, Kiyoshi ; Numakura, Chikahiko ; Yamakawa, Mitsunori ; Mitsui, Tetsuo ; Watanabe, Hisayoshi ; Haga, Hiroaki ; Yazaki, Masahide ; Ohira, Hiromasa ; Ochiai, Yasuo ; Tahara, Toshiyuki ; Nakahara, Tamio ; Yamashiki, Noriyo ; Nakayama, Takahiro ; Kon, Takashi ; Mitsubuchi, Hiroshi ; Yoshida, Hiroshi
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.777-784
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Adult onset episodic encephalopathy due to citrin deficiency-A case report
Author / Creator:Baskar, Dipti ; Lakshmi, Vathsala ; Nalini, Atchayaram ; Arunachal, Gautham ; Bhat, Maya ; Nanjaiah, Nandakumar ; Yadav, Ravi ; Chowdary, Ravindranadh ; Raja, Pritam ; Mounika, Ambati ; Sharath, P ; Vengalil, Seena
Publisher:India: Wolters Kluwer India Pvt. Ltd
Journal title:Annals of the Indian Academy of Neurology, 2023-07, Vol.26 (4), p.553-555
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Citrin Deficiency: Clinical and Nutritional Features
Author / Creator:Komatsu, Michiharu ; Tanaka, Naoki ; Kimura, Takefumi ; Yazaki, Masahide
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2023-05, Vol.15 (10), p.2284
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Reduced carbohydrate intake in citrin-deficient subjects
Author / Creator:Saheki, T. ; Kobayashi, K. ; Terashi, M. ; Ohura, T. ; Yanagawa, Y. ; Okano, Y. ; Hattori, T. ; Fujimoto, H. ; Mutoh, K. ; Kizaki, Z. ; Inui, A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.386-394
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SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
Author / Creator:Song, Yuan-Zong ; Zhang, Zhan-Hui ; Lin, Wei-Xia ; Zhao, Xin-Jing ; Deng, Mei ; Ma, Yan-Li ; Guo, Li ; Chen, Feng-Ping ; Long, Xiao-Ling ; He, Xiang-Ling ; Sunada, Yoshihide ; Soneda, Shun ; Nakatomi, Akiko ; Dateki, Sumito ; Ngu, Lock-Hock ; Kobayashi, Keiko ; Saheki, Takeyori
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-09, Vol.8 (9), p.e74544
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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
Author / Creator:Yasuda, Tomotsugu ; Yamaguchi, Naoki ; Kobayashi, Keiko ; Nishi, Ikumi ; Horinouchi, Hidehito ; Jalil, Md. Abdul ; Li, Meng Xian ; Ushikai, Miharu ; Iijima, Mikio ; Kondo, Ikuko ; Saheki, Takeyori
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2000-12, Vol.107 (6), p.537-545
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK
Author / Creator:Hutchin, T. ; Preece, M. A. ; Hendriksz, C. ; Chakrapani, A. ; McClelland, V. ; Okumura, F. ; Song, Y.-Z. ; Iijima, M. ; Kobayashi, K. ; Saheki, T. ; McKiernan, P. ; Baumann, U.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.151-155
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Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
Author / Creator:Mutoh, K. ; Kurokawa, K. ; Kobayashi, K. ; Saheki, T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.343-347
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Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency
Author / Creator:Wongkittichote, Parith ; Tungpradabkul, Sumalee ; Wattanasirichaigoon, Duangrurdee ; Jensen, Laran T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.821-830
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Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
Author / Creator:Chew, Hui Bein ; Ngu, Lock Hock ; Zabedah, Md Yunus ; Keng, Wee Teik ; Balasubramaniam, Shanti ; Hanifah, Mohd Jamil M. ; Kobayashi, Keiko
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.489-495
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Food Preferences of Patients with Citrin Deficiency
Author / Creator:Okamoto, Miki ; Okano, Yoshiyuki ; Okano, Mai ; Yazaki, Masahide ; Inui, Ayano ; Ohura, Toshihiro ; Murayama, Kei ; Watanabe, Yoriko ; Tokuhara, Daisuke ; Takeshima, Yasuhiro
Publisher:Basel: MDPI AG
Journal title:Nutrients, 2021-09, Vol.13 (9), p.3123
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Case report: An adult-onset type II citrin deficiency patient in the emergency department
Author / Creator:TANG, LUJIA ; CHEN, LIANG ; WANG, HAIRONG ; DAI, LIHUA ; PAN, SHUMING
Publisher:Greece: D.A. Spandidos
Journal title:Experimental and therapeutic medicine, 2016-07, Vol.12 (1), p.410-414
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Showing 1 to 20 of 38 results

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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

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

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AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

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Adult-onset type II citrullinemia: Current insights and therapy

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

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A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosi...

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Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate–glutamate carrier) deficiency

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Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia

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Adult onset episodic encephalopathy due to citrin deficiency-A case report

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Citrin Deficiency: Clinical and Nutritional Features

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Reduced carbohydrate intake in citrin-deficient subjects

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SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

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Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

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Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency

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Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

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Food Preferences of Patients with Citrin Deficiency

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Case report: An adult-onset type II citrin deficiency patient in the emergency department

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