Literature DB >> 9266347

Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.

P M Davies1, L D Fairbanks, J A Duley, H A Simmonds.   

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Year:  1997        PMID： 9266347     DOI： 10.1023/a:1005332606213

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


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  7 in total

1.  Reference values of orotic acid, uracil and pseudouridine in urine.

Authors:  S Ohba; K Kidouchi; C Nakamura; T Katoh; M Kobayashi; Y Wada
Journal:  Adv Exp Med Biol       Date:  1991       Impact factor: 2.622

2.  Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.

Authors:  D Rabier; B Guillois; J Bardet; C Deprun; P Parvy; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism.

Authors:  G S Morris; H A Simmonds; P M Davies
Journal:  Biomed Chromatogr       Date:  1986-06       Impact factor: 1.902

Review 4.  Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

Authors:  A H van Gennip; S Busch; L Elzinga; A E Stroomer; A van Cruchten; E G Scholten; N G Abeling
Journal:  Clin Chem       Date:  1993-03       Impact factor: 8.327

5.  Urinary excretion of purine and pyrimidine metabolites in the neonate.

Authors:  K J Van Acker; F J Eyskens; R M Verkerk; S S Scharpé
Journal:  Pediatr Res       Date:  1993-12       Impact factor: 3.756

6.  Urinary purines and pyrimidines in patients with hyperammonemia of various origins.

Authors:  A H Van Gennip; E J Van Bree-Blom; J Grift; P K DeBree; S K Wadman
Journal:  Clin Chim Acta       Date:  1980-06-10       Impact factor: 3.786

7.  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 in total
  1 in total

1.  Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.

Authors:  C Schmidt; U Hofmann; D Kohlmüller; T Mürdter; U M Zanger; M Schwab; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982
  1 in total

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