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Select record 21
ArticlesPeer ReviewedFull Text
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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Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation
Author / Creator:Tamamori, Akiko ; Okano, Yoshiyuki ; Ozaki, Hajime ; Fujimoto, Akie ; Kajiwara, Masue ; Fukuda, Kazuyoshi ; Kobayashi, Keiko ; Saheki, Takeyori ; Tagami, Yasuko ; Yamano, Tsunekazu
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2002-11, Vol.161 (11), p.609-613
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Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
Author / Creator:Chen, Pingrun ; Gao, Xin ; Chen, Bin ; Zhang, Yan
Publisher:Poland: De Gruyter
Journal title:Open medicine (Warsaw, Poland), 2021-03, Vol.16 (1), p.455-458
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ArticlesPeer ReviewedFull Text
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Author / Creator:Ohura, T. ; Kobayashi, K. ; Tazawa, Y. ; Abukawa, D. ; Sakamoto, O. ; Tsuchiya, S. ; Saheki, T.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.139-144
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Neonatal presentation of adult-onset type II citrullinemia
Author / Creator:Ohura, Toshihiro ; Kobayashi, Keiko ; Tazawa, Yusaku ; Nishi, Ikumi ; Abukawa, Daiki ; Sakamoto, Osamu ; Iinuma, Kazuie ; Saheki, Takeyori
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2001-02, Vol.108 (2), p.87-90
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ArticlesPeer ReviewedFull Text
Biochemical and molecular characteristics of citrin deficiency in Korean children
Author / Creator:Oh, Seak Hee ; Lee, Beom Hee ; Kim, Gu-Hwan ; Choi, Jin-Ho ; Kim, Kyung Mo ; Yoo, Han-Wook
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-02, Vol.62 (2), p.305-307
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ArticlesPeer ReviewedFull Text
Adult-onset type II citrullinemia: Current insights and therapy Adult-onset type II citrullinemia: Current insights and therapy
Author / Creator:Hayasaka K ; Numakura C
Publisher:Dove Medical Press
Journal title:Application of clinical genetics, 2018-12, Vol.11, p.163-170
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HYPERAMMONAEMIA IN A PATIENT WITH ‘WALKING WOUNDED’ NON-CONVULSIVE STATUS
Author / Creator:Hosseini, Akram A ; Ailenei, Elena ; Sturrock, Aaron ; Preece, Mary Anne ; Dawson, Charlotte ; Munkacsi, Csaba
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.e1-e1
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Select record 38
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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants
Author / Creator:Treepongkaruna, Suporn ; Jitraruch, Suttiruk ; Kodcharin, Porawee ; Charoenpipop, Dussadee ; Suwannarat, Pim ; Pienvichit, Paneeya ; Kobayashi, Keiko ; Wattanasirichaigoon, Duangrurdee
Publisher:England: BioMed Central
Journal title:BMC gastroenterology, 2012-10, Vol.12 (1), p.141-141
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Select record 39
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Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
Author / Creator:Lee, Ni‐Chung ; Chien, Yin‐Hsiu ; Kobayashi, Keiko ; Saheki, Takeyori ; Chen, Huey‐Ling ; Chiu, Pao‐Chin ; Ni, Yen‐Hsuan ; Chang, Mei‐Hwei ; Hwu, Wuh‐Liang
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.551-555
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Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review
Author / Creator:Kido, Jun ; Sugawara, Keishin ; Tavoulari, Sotiria ; Makris, Georgios ; Rüfenacht, Véronique ; Nakamura, Kimitoshi ; Kunji, Edmund R S ; Häberle, Johannes
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Human mutation, 2025-01, Vol.2025
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Showing 21 to 40 of 38 results

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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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Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

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Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

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Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

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Neonatal presentation of adult-onset type II citrullinemia

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Biochemical and molecular characteristics of citrin deficiency in Korean children

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Adult-onset type II citrullinemia: Current insights and therapy Adult-onset type II citrullinemia: Current insights and therapy

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HYPERAMMONAEMIA IN A PATIENT WITH ‘WALKING WOUNDED’ NON-CONVULSIVE STATUS

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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants

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Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

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Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

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