Literature DB >> 1815186

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

A C Mamourian1, A du Plessis.   

Abstract

A 2 1/2 year old girl was admitted to the hospital because of recurrent vomitting, impaired consciousness, and hyperammonemia. MR and CT findings resembled an infarct, but she was found to have a defect in the urea cycle, partial ornithine transcarbamylase deficiency.

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Year:  1991        PMID： 1815186     DOI： 10.1007/BF02012608

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  5 in total

1.  Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero.

Authors:  F Filloux; J J Townsend; C Leonard
Journal:  J Pediatr       Date:  1986-06       Impact factor: 4.406

2.  Neurodegenerative diseases of childhood: MR and CT evaluation.

Authors:  S A Mirowitz; K Sartor; A J Prensky; M Gado; F J Hodges
Journal:  J Comput Assist Tomogr       Date:  1991 Mar-Apr       Impact factor: 1.826

3.  Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

Authors:  M Msall; M L Batshaw; R Suss; S W Brusilow; E D Mellits
Journal:  N Engl J Med       Date:  1984-06-07       Impact factor: 91.245

4.  A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.

Authors:  M Takayanagi; A Ohtake; N Ogura; H Nakajima; M Hoshino
Journal:  Brain Dev       Date:  1984       Impact factor: 1.961

5.  Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.

Authors:  B E Kendall; D P Kingsley; J V Leonard; S Lingam; V G Oberholzer
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-01       Impact factor: 10.154
  5 in total
  15 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

2.  Urea cycle disorders: brain MRI and neurological outcome.

Authors:  William R Bireley; Johan L K Van Hove; Renata C Gallagher; Laura Z Fenton
Journal:  Pediatr Radiol       Date:  2011-10-12

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

Review 4.  Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Authors:  Ileana Pacheco-Colón; Stanley Fricke; John VanMeter; Andrea L Gropman
Journal:  Mol Genet Metab       Date:  2014-05-20       Impact factor: 4.797

5.  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

6.  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

7.  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

Review 8.  Neurological implications of urea cycle disorders.

Authors:  A L Gropman; M Summar; J V Leonard
Journal:  J Inherit Metab Dis       Date:  2007-11-23       Impact factor: 4.982

9.  Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

Authors:  Jun-ichi Takanashi; A James Barkovich; Sabrina F Cheng; Kara Weisiger; Carol O Zlatunich; Christine Mudge; Philip Rosenthal; Mendel Tuchman; Seymour Packman
Journal:  AJNR Am J Neuroradiol       Date:  2003 Jun-Jul       Impact factor: 3.825

10.  Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.

Authors:  Jun-Ichi Takanashi; A James Barkovich; Sabrina F Cheng; Dana Kostiner; John C Baker; Seymour Packman
Journal:  AJNR Am J Neuroradiol       Date:  2003-03       Impact factor: 3.825
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