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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1965 | 1 |
1997 | 1 |
2017 | 1 |
2024 | 0 |
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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15.
J Inherit Metab Dis. 2017.
PMID: 28205048
Free PMC article.
All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. ...
All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with co …
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
BECROFT DM, PHILLIPS LI.
BECROFT DM, et al.
Br Med J. 1965 Feb 27;1(5434):547-52. doi: 10.1136/bmj.1.5434.547.
Br Med J. 1965.
PMID: 14243056
Free PMC article.
No abstract available.
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Pyrimidine metabolism in hereditary orotic aciduria.
Sumi S, Suchi M, Kidouchi K, Morishita H, Ohba S, Wada Y.
Sumi S, et al.
J Inherit Metab Dis. 1997 Mar;20(1):104-5. doi: 10.1023/a:1005330127995.
J Inherit Metab Dis. 1997.
PMID: 9061575
No abstract available.
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