Literature DB >> 16601887

Two cases of citrullinaemia presenting with stroke.

J H Choi1, H Kim, H W Yoo.   

Abstract

Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.

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Year:  2006        PMID： 16601887     DOI： 10.1007/s10545-006-0194-2

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Authors:  K Kobayashi; M J Jackson; D B Tick; W E O'Brien; A L Beaudet
Journal:  J Biol Chem       Date:  1990-07-05       Impact factor: 5.157

2.  Ornithine transcarbamylase deficiency presenting with strokelike episodes.

Authors:  J Christodoulou; I A Qureshi; R R McInnes; J T Clarke
Journal:  J Pediatr       Date:  1993-03       Impact factor: 4.406

3.  Urea cycle defect: a case with MR and CT findings resembling infarct.

Authors:  A C Mamourian; A du Plessis
Journal:  Pediatr Radiol       Date:  1991
  3 in total
  4 in total

1.  Stroke as a rare manifestation of classical citrullinemia.

Authors:  Ankur Singh; Seema Kapoor; Nitin Maheshwari
Journal:  Indian J Pediatr       Date:  2014-03-15       Impact factor: 1.967

Review 2.  Ammonia toxicity to the brain.

Authors:  Olivier Braissant; Valérie A McLin; Cristina Cudalbu
Journal:  J Inherit Metab Dis       Date:  2012-10-30       Impact factor: 4.982

3.  A two-level model for the analysis of syndrome of acute ischemic stroke: from diagnostic model to molecular mechanism.

Authors:  Wen Dai; Xi Liu; Zhichen Zhang; Jianxin Chen; Rongjuan Guo; Hong Zheng; Xianglan Jin; Shaoxin Wen; Yibo Gao; Tiangang Li; Peng Lu; Yunling Zhang
Journal:  Evid Based Complement Alternat Med       Date:  2013-04-04       Impact factor: 2.629

Review 4.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123
  4 in total

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