Literature DB >> 11596657

Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.

B A Barshop1, W L Nyhan, C Climent, V Rubio.   

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Year:  2001        PMID： 11596657     DOI： 10.1023/a:1010593916546

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


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  3 in total

1.  Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

Authors:  M Spada; O Guardamagna; D Rabier; S B van der Meer; P Parvy; J Bardet; A Ponzone; J M Saudubray
Journal:  J Pediatr       Date:  1994-08       Impact factor: 4.406

2.  Allopurinol challenge test in children.

Authors:  A B Burlina; V Ferrari; C Dionisi-Vici; A Bordugo; F Zacchello; M Tuchman
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency.

Authors:  S Capistrano-Estrada; D L Marsden; W L Nyhan; R O Newbury; H F Krous; M Tuchman
Journal:  Pediatr Pathol       Date:  1994 Mar-Apr
  3 in total
  1 in total

1.  How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Authors:  S Grünewald; L Fairbanks; S Genet; T Cranston; J Hüsing; J V Leonard; M P Champion
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  1 in total

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