Literature DB >> 8051924

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.

I Sebesta1, J Krijt, L D Fairbanks, H A Simmonds.   

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Year:  1994        PMID: 8051924     DOI: 10.1007/bf00735417

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


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  4 in total

1.  Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Authors:  E R Hauser; J E Finkelstein; D Valle; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

2.  Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Authors:  P H Arn; E R Hauser; G H Thomas; G Herman; D Hess; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

3.  The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.

Authors:  I Sebesta; L D Fairbanks; P M Davies; H A Simmonds; J V Leonard
Journal:  Clin Chim Acta       Date:  1994-01-14       Impact factor: 3.786

4.  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

  4 in total
  2 in total

1.  The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.

Authors:  J R Bonham; P Guthrie; M Downing; J C Allen; M S Tanner; M Sharrard; C Rittey; J M Land; A Fensom; D O'Neill; J A Duley; L D Fairbanks
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

2.  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

  2 in total

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