Literature DB >> 11343053

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

T Tomomasa1, K Kobayashi, H Kaneko, H Shimura, T Fukusato, M Tabata, Y Inoue, S Ohwada, M Kasahara, Y Morishita, M Kimura, T Saheki, A Morikawa.   

Abstract

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.

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Year:  2001        PMID： 11343053     DOI： 10.1067/mpd.2001.113361

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  27 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.  Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis.

Authors:  Hai-Yan Fu; Shao-Ren Zhang; Hui Yu; Xiao-Hong Wang; Qi-Rong Zhu; Jian-She Wang
Journal:  World J Gastroenterol       Date:  2010-05-14       Impact factor: 5.742

3.  Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.

Authors:  Momoko Hachisu; Yoichiro Oda; Masahiro Goto; Keiko Kobayashi; Takeyori Saheki; Toshihiro Ohura; Seiji Noma; Sachiko Kitanaka
Journal:  Eur J Pediatr       Date:  2004-12-09       Impact factor: 3.183

4.  Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency.

Authors:  K Hayasaka; C Numakura; K Toyota; T Kimura
Journal:  JIMD Rep       Date:  2011-09-06

5.  Citrin deficiency presenting as acute liver failure in an eight-month-old infant.

Authors:  Mei-Hong Zhang; Jing-Yu Gong; Jian-She Wang
Journal:  World J Gastroenterol       Date:  2015-06-21       Impact factor: 5.742

6.  Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.

Authors:  Rui Chen; Xiao-Hong Wang; Hai-Yan Fu; Shao-Ren Zhang; Kuerbanjiang Abudouxikuer; Takeyori Saheki; Jian-She Wang
Journal:  World J Gastroenterol       Date:  2013-07-28       Impact factor: 5.742

7.  Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.

Authors:  E Naito; M Ito; S Matsuura; T Saijo; Y Ogawa; S Kitamura; K Kobayashi; T Saheki; Y Nishimura; N Sakura; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

8.  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

9.  mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.

Authors:  Jingsong Cao; Ding An; Mikel Galduroz; Jenny Zhuo; Shi Liang; Marianne Eybye; Andrea Frassetto; Eishi Kuroda; Aki Funahashi; Jordan Santana; Cosmin Mihai; Kerry E Benenato; E Sathyajith Kumarasinghe; Staci Sabnis; Timothy Salerno; Kimberly Coughlan; Edward J Miracco; Becca Levy; Gilles Besin; Joshua Schultz; Christine Lukacs; Lin Guey; Patrick Finn; Tatsuhiko Furukawa; Paloma H Giangrande; Takeyori Saheki; Paolo G V Martini
Journal:  Mol Ther       Date:  2019-04-23       Impact factor: 11.454

10.  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
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