Literature DB >> 15592876

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.

Momoko Hachisu1, Yoichiro Oda, Masahiro Goto, Keiko Kobayashi, Takeyori Saheki, Toshihiro Ohura, Seiji Noma, Sachiko Kitanaka.   

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Year:  2004        PMID： 15592876     DOI： 10.1007/s00431-004-1549-z

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.

Authors:  T Tomomasa; K Kobayashi; H Kaneko; H Shimura; T Fukusato; M Tabata; Y Inoue; S Ohwada; M Kasahara; Y Morishita; M Kimura; T Saheki; A Morikawa
Journal:  J Pediatr       Date:  2001-05       Impact factor: 4.406

2.  The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Authors:  K Kobayashi; D S Sinasac; M Iijima; A P Boright; L Begum; J R Lee; T Yasuda; S Ikeda; R Hirano; H Terazono; M A Crackower; I Kondo; L C Tsui; S W Scherer; T Saheki
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

3.  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 diagnosis methods for nine mutations.

Authors:  Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; Masanori Nakagawa; Mitsuhiro Osame; Ikuko Kondo; Takeyori Saheki
Journal:  Hum Mutat       Date:  2002-02       Impact factor: 4.878

4.  Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease.

Authors:  Yasushi Imamura; Keiko Kobayashi; Toshihiko Shibatou; Sachiko Aburada; Kenji Tahara; Osamu Kubozono; Takeyori Saheki
Journal:  Hepatol Res       Date:  2003-05       Impact factor: 4.288

5.  A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.

Authors:  Toshihiro Ohura; Keiko Kobayashi; Daiki Abukawa; Yusaku Tazawa; Jun-ichiro Aikawa; Osamu Sakamoto; Takeyori Saheki; Kazuie Iinuma
Journal:  Eur J Pediatr       Date:  2003-02-27       Impact factor: 3.183

Review 6.  Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Authors:  Takeyori Saheki; Keiko Kobayashi
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172
  6 in total
  13 in total

1.  The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.

Authors:  Hai-Yan Fu; Shao-Ren Zhang; Xiao-Hong Wang; Takeyori Saheki; Keiko Kobayashi; Jian-She Wang
Journal:  J Gastroenterol       Date:  2010-10-07       Impact factor: 7.527

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

Authors:  Ni-Chung Lee; Yin-Hsiu Chien; Keiko Kobayashi; Takeyori Saheki; Huey-Ling Chen; Pao-Chin Chiu; Yen-Hsuan Ni; Mei-Hwei Chang; Wuh-Liang Hwu
Journal:  J Inherit Metab Dis       Date:  2006-05-30       Impact factor: 4.982

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

Authors:  Parith Wongkittichote; Sumalee Tungpradabkul; Duangrurdee Wattanasirichaigoon; Laran T Jensen
Journal:  J Inherit Metab Dis       Date:  2012-10-03       Impact factor: 4.982

4.  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

5.  Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.

Authors:  Chun-Ting Lu; Qi-Ping Shi; Ze-Jian Li; Jiong Li; Lie Feng
Journal:  Exp Biol Med (Maywood)       Date:  2017-05-18

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

Authors:  T Hutchin; M A Preece; C Hendriksz; A Chakrapani; V McClelland; F Okumura; Y-Z Song; M Iijima; K Kobayashi; T Saheki; P McKiernan; U Baumann
Journal:  J Inherit Metab Dis       Date:  2009-06-11       Impact factor: 4.982

Review 7.  What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

Authors:  Vassili Valayannopoulos; Stéphane Romano; Karine Mention; Anne Vassault; Daniel Rabier; Michel Polak; Jean-Jacques Robert; Yves de Keyzer; Pascale de Lonlay
Journal:  Eur J Pediatr       Date:  2007-10-03       Impact factor: 3.183

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

Authors:  T Ohura; K Kobayashi; Y Tazawa; D Abukawa; O Sakamoto; S Tsuchiya; T Saheki
Journal:  J Inherit Metab Dis       Date:  2007-02-24       Impact factor: 4.750

9.  Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Authors:  Chun-Ting Lu; Jing Yang; Si-Min Huang; Lie Feng; Ze-Jian Li
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.817

10.  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
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