Literature DB >> 8441099

Ornithine transcarbamylase deficiency presenting with strokelike episodes.

J Christodoulou1, I A Qureshi, R R McInnes, J T Clarke.   

Abstract

A girl with ornithine transcarbamylase deficiency had a history of recurrent strokelike episodes. The differential diagnosis of unexplained stroke should include primary urea cycle defects.

Entities:  

Mesh：

Year:  1993        PMID： 8441099     DOI： 10.1016/s0022-3476(05)83432-8

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


  13 in total

1.  Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.

Authors:  Andrea L Gropman; Napapon Sailasuta; Kent C Harris; Osama Abulseoud; Brian D Ross
Journal:  Radiology       Date:  2009-06-30       Impact factor: 11.105

Review 2.  Brain imaging in urea cycle disorders.

Authors:  Andrea Gropman
Journal:  Mol Genet Metab       Date:  2010-02-13       Impact factor: 4.797

3.  Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency.

Authors:  A L Gropman; B Gertz; K Shattuck; I L Kahn; R Seltzer; L Krivitsky; J Van Meter
Journal:  AJNR Am J Neuroradiol       Date:  2010-05-20       Impact factor: 3.825

4.  Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.

Authors:  B E Wilson; W N Hobbs; J J Newmark; S J Farrow
Journal:  West J Med       Date:  1994-08

5.  Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Authors:  Renata C Gallagher; Christina Lam; Derek Wong; Stephen Cederbaum; Ronald J Sokol
Journal:  J Pediatr       Date:  2014-01-30       Impact factor: 4.406

6.  Two cases of citrullinaemia presenting with stroke.

Authors:  J H Choi; H Kim; H W Yoo
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 7.  Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease.

Authors:  Adeline Vanderver
Journal:  Curr Neurol Neurosci Rep       Date:  2005-03       Impact factor: 5.081

8.  Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

Authors:  C E Keegan; D M Martin; D J Quint; J L Gorski
Journal:  Eur J Pediatr       Date:  2003-02-07       Impact factor: 3.183

9.  1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Authors:  A L Gropman; S T Fricke; R R Seltzer; A Hailu; A Adeyemo; A Sawyer; J van Meter; W D Gaillard; R McCarter; M Tuchman; M Batshaw
Journal:  Mol Genet Metab       Date:  2008-07-26       Impact factor: 4.797

10.  [Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

Authors:  M Bürle; H Mende; U Plum; M Bluthardt; M Walka; G Geldner
Journal:  Anaesthesist       Date:  2009-06       Impact factor: 1.041
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