Literature DB >> 10399103

Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.

V E Shih1, A P Safran, A H Ropper, M Tuchman.   

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Year:  1999        PMID： 10399103     DOI： 10.1023/a:1005502718790

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


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  3 in total

1.  The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Authors:  M Tuchman; H Morizono; B S Rajagopal; R J Plante; N M Allewell
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

2.  Transient visual loss in ornithine transcarbamoylase deficiency.

Authors:  N G Snebold; J F Rizzo; S Lessell; R C Pruett
Journal:  Am J Ophthalmol       Date:  1987-10-15       Impact factor: 5.258

3.  Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

Authors:  M Tuchman; R A Holzknecht; A B Gueron; S A Berry; M Y Tsai
Journal:  Pediatr Res       Date:  1992-11       Impact factor: 3.756
  3 in total

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