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Volumn 45, Issue 7, 1999, Pages 995-1001

Optimization of allopurinol challenge: Sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ORNITHINE CARBAMOYLTRANSFERASE; OROTIDINE;

EID: 0032779266     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.7.995     Document Type: Article
Times cited : (12)

References (13)
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  • 4
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    • The allopurinol loading test for identification of carriers of ornithine carbamoyl transferase deficiency: Studies in a healthy control population and females at risk
    • Sebesta I, Fairbanks LD, Davies PM, Simmonds JA, Leonard JV. The allopurinol loading test for identification of carriers of ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clin Chim Acta 1994;224:45-54.
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    • Sebesta, I.1    Fairbanks, L.D.2    Davies, P.M.3    Simmonds, J.A.4    Leonard, J.V.5
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    • The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency
    • Sebesta I, Krijt J, Fairbanks LD, Simmonds HA. The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency. J Inherit Metab Dis 1994;17:133-4.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 133-134
    • Sebesta, I.1    Krijt, J.2    Fairbanks, L.D.3    Simmonds, H.A.4
  • 6
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    • Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia and homocitrullinuria syndrome
    • Tuchman M, Knopman DS, Shih VE. Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia and homocitrullinuria syndrome. Arch Neurol 1990;47:1134-7.
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  • 7
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    • Mitochondrial disorders may cause an increased excretion of orotic acid and a positive response to allopurinol loading
    • P5.13
    • Bonham JR, Downing M, Guthrie P, Olpin SE, Manning NJ, Pollit RJ, et al. Mitochondrial disorders may cause an increased excretion of orotic acid and a positive response to allopurinol loading [Abstract]. J Inherit Metab Dis 1997;20(Suppl 1):61 (P5.13).
    • (1997) J Inherit Metab Dis , vol.20 , Issue.SUPPL. 1 , pp. 61
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  • 8
    • 0028085701 scopus 로고
    • Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: Diagnostic failure of protein loading and allopurinol challenge tests
    • Spada M, Guardamagna O, Rabier D, van der Meer SB, Parvy P, Bardet J, et al. Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. J Pediatr 1994;125:249-51.
    • (1994) J Pediatr , vol.125 , pp. 249-251
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    • Ahrens, M.J.1    Berry, S.A.2    Whitley, C.B.3    Markowitz, D.J.4    Plante, R.J.5    Tuchman, M.6
  • 10
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    • Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.