Literature DB >> 6428329

Severe ornithine transcarbamylase deficiency. Two and a half years' survival with normal development.

P Guibaud, P Baxter, J Bourgeois, J J Louis, J Bureau.   

Abstract

The clinical course and management of a boy with severe ornithine transcarbamylase deficiency are described. In addition to treatment with sodium benzoate and amino acid keto analogues, mannitol may be useful in hyperammonaemia and nocturnal gavage feeding aids maintenance treatment.

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Year:  1984        PMID： 6428329      PMCID： PMC1628496          DOI： 10.1136/adc.59.5.477

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids.

Authors:  J W McReynolds; S Mantagos; S Brusilow; L E Rosenberg
Journal:  J Pediatr       Date:  1978-09       Impact factor: 4.406

2.  Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.

Authors:  P Briand; B Francois; D Rabier; L Cathelineau
Journal:  Biochim Biophys Acta       Date:  1982-05-21

3.  Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Authors:  M L Batshaw; Y Roan; A L Jung; L A Rosenberg; S W Brusilow
Journal:  N Engl J Med       Date:  1980-02-28       Impact factor: 91.245

4.  Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Authors:  M L Batshaw; S Brusilow; L Waber; W Blom; A M Brubakk; B K Burton; H M Cann; D Kerr; P Mamunes; R Matalon; D Myerberg; I A Schafer
Journal:  N Engl J Med       Date:  1982-06-10       Impact factor: 91.245
  4 in total
  1 in total

1.  DNA analysis of ornithine transcarbamylase deficiency.

Authors:  U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183
  1 in total

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