Literature DB >> 9266354

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.

K H Carpenter1, M Potter, J W Hammond, B Wilcken.   

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Year:  1997        PMID： 9266354     DOI： 10.1023/a:1005369726686

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


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  8 in total

1.  Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.

Authors:  Y S Shin; S Reiter; O Zelger; I Brünstler; A von Rücker
Journal:  Adv Exp Med Biol       Date:  1986       Impact factor: 2.622

2.  The orotic aciduria of pregnancy.

Authors:  M H Wood; W J O'Sullivan
Journal:  Am J Obstet Gynecol       Date:  1973-05-01       Impact factor: 8.661

3.  A new stable-isotope dilution method for measurement of orotic acid utilizing solvent-extracted urine.

Authors:  M Rimoldi; P Bergomi; A Romeo; S DiDonato
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Conditions affecting the colorimetry of orotic acid and orotidine in urine.

Authors:  M L Harris; V G Oberholzer
Journal:  Clin Chem       Date:  1980-03       Impact factor: 8.327

5.  Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates.

Authors:  J Rajantie
Journal:  Pediatr Res       Date:  1981-02       Impact factor: 3.756

6.  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

7.  Mechanism of allopurinol-mediated increase in enzyme activity in man.

Authors:  T D Beardmore; J S Cashman; W N Kelley
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808

8.  Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.

Authors:  H A Simmonds; D R Webster; D M Becroft; C F Potter
Journal:  Eur J Clin Invest       Date:  1980-08       Impact factor: 4.686
  8 in total
  4 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.  Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.

Authors:  M Potter; J W Hammond; K G Sim; A K Green; B Wilcken
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

3.  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

4.  Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Authors:  Saskia B Wortmann; Margaret A Chen; Roberto Colombo; Alessandro Pontoglio; Bader Alhaddad; Lorenzo D Botto; Tatiana Yuzyuk; Curtis R Coughlin; Maria Descartes; Stephanie Grűnewald; Bruno Maranda; Philippa B Mills; James Pitt; Catherine Potente; Richard Rodenburg; Leo A J Kluijtmans; Srirangan Sampath; Emil F Pai; Ron A Wevers; George E Tiller
Journal:  J Inherit Metab Dis       Date:  2017-02-15       Impact factor: 4.982
  4 in total

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