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Volumn 47, Issue 3, 2005, Pages 262-266

Urinary uracil in female patients with ornithine transcarbamylase deficiency

Author keywords

Orotic acid; OTC; Uracil; Urea cycle; X inactivation

Indexed keywords

ALANINE AMINOTRANSFERASE; AMMONIA; ARGININE; ASPARTATE AMINOTRANSFERASE; GLYCYRRHIZIC ACID; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PHYTOMENADIONE; PYRIMIDINE; URACIL;

EID: 20444468502     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02063.x     Document Type: Article
Times cited : (1)

References (15)
  • 1
    • 0022642207 scopus 로고
    • Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency
    • Batshaw ML, Msall M, Beaudet A, Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J. Pediatr. 1986; 108: 236-41.
    • (1986) J. Pediatr. , vol.108 , pp. 236-241
    • Batshaw, M.L.1    Msall, M.2    Beaudet, A.3    Trojak, J.4
  • 2
    • 0031041827 scopus 로고    scopus 로고
    • Familial lethal inheritance of mutanted paternal gene in female causing X-linked ornithine transcarbamylase (OTC) deficiency
    • Komaki S, Matsuura T, Oyanagi K et al. Familial lethal inheritance of mutanted paternal gene in female causing X-linked ornithine transcarbamylase (OTC) deficiency. Am. J. Med. Genet. 1997; 69: 177-81.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 177-181
    • Komaki, S.1    Matsuura, T.2    Oyanagi, K.3
  • 4
    • 0034648504 scopus 로고    scopus 로고
    • Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with clinical and biochemical phenotype
    • McCullough BM, Yudkoff M, Batshaw ML, Wilson JM, Rager SE, Tuchman M. Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with clinical and biochemical phenotype. Am. J. Med. Genet. 2000; 93: 313-19.
    • (2000) Am. J. Med. Genet. , vol.93 , pp. 313-319
    • McCullough, B.M.1    Yudkoff, M.2    Batshaw, M.L.3    Wilson, J.M.4    Rager, S.E.5    Tuchman, M.6
  • 5
    • 0015261497 scopus 로고
    • X chromosome inactivation and developmental patterns in mammals
    • Lyon MF. X chromosome inactivation and developmental patterns in mammals. Biol. Rev. 1972; 47: 1-35.
    • (1972) Biol. Rev. , vol.47 , pp. 1-35
    • Lyon, M.F.1
  • 6
    • 0031755412 scopus 로고
    • X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency
    • Yorifuji T, Muroi J, Uematsu A et al. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin. Genet. 1988; 54: 349-53.
    • (1988) Clin. Genet. , vol.54 , pp. 349-353
    • Yorifuji, T.1    Muroi, J.2    Uematsu, A.3
  • 8
    • 0019861754 scopus 로고
    • Pyrimidine and purine metabolites in ornithine transcarbamylase deficiency
    • Webster DR, Simmonds HA. Pyrimidine and purine metabolites in ornithine transcarbamylase deficiency. J. Inherit. Metab. Dis. 1981; 4: 27-31.
    • (1981) J. Inherit. Metab. Dis. , vol.4 , pp. 27-31
    • Webster, D.R.1    Simmonds, H.A.2
  • 9
    • 0034241347 scopus 로고    scopus 로고
    • Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil
    • Sumi S, Matsuura T, Kidouchi K et al. Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil. Int. J. Mol. Med. 2000; 6: 177-80.
    • (2000) Int. J. Mol. Med. , vol.6 , pp. 177-180
    • Sumi, S.1    Matsuura, T.2    Kidouchi, K.3
  • 10
    • 0025734534 scopus 로고
    • Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching
    • Ohba S, Kidouch K, Katoh T, Kibe T, Kobayashi M, Wada Y. Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching. J. Chromatogr. B. 1991; 568: 325-32.
    • (1991) J. Chromatogr. B , vol.568 , pp. 325-332
    • Ohba, S.1    Kidouch, K.2    Katoh, T.3    Kibe, T.4    Kobayashi, M.5    Wada, Y.6
  • 11
    • 0026355971 scopus 로고
    • Automated quantitave anaysis for orotidine and uridine/thymine in urine by high-performance liquid chromatography with column switching
    • Kidouchi K, Nakamura C, Katoh T, Kibe T, Ohba S, Wada Y. Automated quantitave anaysis for orotidine and uridine/ thymine in urine by high-performance liquid chromatography with column switching. Adv. Exp. Med. Biol. 1991; 309B: 31-5.
    • (1991) Adv. Exp. Med. Biol. , vol.309 B , pp. 31-35
    • Kidouchi, K.1    Nakamura, C.2    Katoh, T.3    Kibe, T.4    Ohba, S.5    Wada, Y.6
  • 12
    • 0027218884 scopus 로고
    • Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: Application of PCR-single-strand conformation polymorphisms for all exon and adjacent introns
    • Matuura T, Hoshide R, Setoyama C et al. Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: Application of PCR-single-strand conformation polymorphisms for all exon and adjacent introns. Hum. Genet. 1993; 92: 49-56.
    • (1993) Hum. Genet. , vol.92 , pp. 49-56
    • Matuura, T.1    Hoshide, R.2    Setoyama, C.3
  • 13
    • 0033783745 scopus 로고    scopus 로고
    • Urinary pyrimidine analysis on healthy newborns, infants, children, adults and patients with congenital metabolic diseases
    • Asai M, Sumi S, Kidouchi K et al. Urinary pyrimidine analysis on healthy newborns, infants, children, adults and patients with congenital metabolic diseases. Pediatr. Int. 2000; 42: 499-503.
    • (2000) Pediatr. Int. , vol.42 , pp. 499-503
    • Asai, M.1    Sumi, S.2    Kidouchi, K.3
  • 15
    • 0030808329 scopus 로고    scopus 로고
    • Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity
    • Valla S, Steiner F, Schlumbom V et al. Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. J. Inherit. Metab. Dis. 1997; 20: 517-24.
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 517-524
    • Valla, S.1    Steiner, F.2    Schlumbom, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.