Literature DB >> 23369404

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

Masahide Yazaki1, Michiaki Kinoshita, Shinji Ogawa, Satoshi Fujimi, Akira Matsushima, Akiyo Hineno, Ko-ichi Tazawa, Kazuhiro Fukushima, Ryo Kimura, Makoto Yanagida, Hidenori Matsunaga, Takeyori Saheki, Shu-ichi Ikeda.   

Abstract

Entities:  

Keywords:  Aged patients; CTLN2; Citrin deficiency; Hepatic encephalopathy; Sodium pyruvate

Mesh：

Substances：

Year:  2013        PMID： 23369404     DOI： 10.1016/j.clineuro.2012.12.027

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  6 in total

1.  Psychiatric adult-onset of urea cycle disorders: A case-series.

Authors:  Adrien Bigot; Paul Brunault; Christian Lavigne; François Feillet; Sylvie Odent; Elsa Kaphan; Christel Thauvin; Vanessa Leguy; Pierre Broué; Michel C Tchan; François Maillot
Journal:  Mol Genet Metab Rep       Date:  2017-07-06

Review 2.  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

Review 3.  Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Authors:  S Redant; A Empain; A Mugisha; P Kamgang; R Attou; P M Honoré; D De Bels
Journal:  Ann Intensive Care       Date:  2021-01-06       Impact factor: 6.925

4.  Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Authors:  Zhan-Hui Zhang; Wei-Xia Lin; Mei Deng; Shu-Tao Zhao; Han-Shi Zeng; Feng-Ping Chen; Yuan-Zong Song
Journal:  PLoS One       Date:  2014-02-21       Impact factor: 3.240

5.  Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.

Authors:  Han-Shi Zeng; Shu-Tao Zhao; Mei Deng; Zhan-Hui Zhang; Xiang-Ran Cai; Feng-Ping Chen; Yuan-Zong Song
Journal:  Int J Mol Med       Date:  2014-09-10       Impact factor: 4.101

Review 6.  Inborn disorders of the malate aspartate shuttle.

Authors:  Melissa H Broeks; Clara D M van Karnebeek; Ronald J A Wanders; Judith J M Jans; Nanda M Verhoeven-Duif
Journal:  J Inherit Metab Dis       Date:  2021-05-24       Impact factor: 4.982
  6 in total

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