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Volumn 102, Issue 5 SUPPL., 2003, Pages 1212-1215

Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; BENZOIC ACID; GLUTAMINE; LACTULOSE; ORNITHINE CARBAMOYLTRANSFERASE; PHENYLACETATE SODIUM; PHENYLACETIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

EID: 0242352621     PISSN: 00297844     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0029-7844(03)00165-0     Document Type: Article
Times cited : (37)

References (10)
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  • 2
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    • Urea cycle enzymes
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
    • Brusilow S.W., Horwich A.L. Urea cycle enzymes. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic basis of inherited diseases. 6th ed: 1989;629-663 McGraw-Hill, New York.
    • (1989) The metabolic basis of inherited diseases 6th ed , pp. 629-663
    • Brusilow, S.W.1    Horwich, A.L.2
  • 3
    • 0000467069 scopus 로고
    • Hyperammonaemia: A new instance of an inborn enzymatic defect of the biosynthesis of urea
    • Russell A., Levin B., Oberholzer V.G., Sinclair L. Hyperammonaemia A new instance of an inborn enzymatic defect of the biosynthesis of urea . Lancet. 2:1962;699-700.
    • (1962) Lancet , vol.2 , pp. 699-700
    • Russell, A.1    Levin, B.2    Oberholzer, V.G.3    Sinclair, L.4
  • 4
    • 0036152804 scopus 로고    scopus 로고
    • Late diagnosis of ornithine transcarbamylase defect in three related female patients: Polymorphic presentations
    • Legras A., Labarthe F., Maillot F., Garrigue M.A., Kouatchet A., Ogier D. Late diagnosis of ornithine transcarbamylase defect in three related female patients Polymorphic presentations . Crit Care Med. 30:2002;241-244.
    • (2002) Crit Care Med , vol.30 , pp. 241-244
    • Legras, A.1    Labarthe, F.2    Maillot, F.3    Garrigue, M.A.4    Kouatchet, A.5    Ogier, D.6
  • 5
    • 0025296601 scopus 로고
    • Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: A cause of postpartum coma
    • Arn P.H., Hauser E.R., Thomas G.H., Herman G., Hess D., Brusilow S.W. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus A cause of postpartum coma . N Engl J Med. 322:1990;1652-1655.
    • (1990) N Engl J Med , vol.322 , pp. 1652-1655
    • Arn, P.H.1    Hauser, E.R.2    Thomas, G.H.3    Herman, G.4    Hess, D.5    Brusilow, S.W.6
  • 6
    • 0031646276 scopus 로고    scopus 로고
    • The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
    • Maestri N.E., Lord C., Bale G.M., Brusilow S.W. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore). 77:1998;389-397.
    • (1998) Medicine (Baltimore) , vol.77 , pp. 389-397
    • Maestri, N.E.1    Lord, C.2    Bale, G.M.3    Brusilow, S.W.4
  • 7
    • 0022652866 scopus 로고
    • Natural history of symptomatic partial ornithine transcarbamylase deficiency
    • Rowe P.C., Newman S.L., Brusilow S.W. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med. 314:1986;541-547.
    • (1986) N Engl J Med , vol.314 , pp. 541-547
    • Rowe, P.C.1    Newman, S.L.2    Brusilow, S.W.3
  • 8
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    • M.L. Buyse. Dover, Massachusetts: Center for Birth Defects Information Service
    • Buyse M.L. Birth defects encyclopedia. 1990;1307-1308 Center for Birth Defects Information Service, Dover, Massachusetts.
    • (1990) Birth defects encyclopedia , pp. 1307-1308
  • 9
    • 0031927282 scopus 로고    scopus 로고
    • Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood
    • Watanabe A., Sekizawa A., Taguchi A., Saito H., Yanaihara T., Shimazu M., et al. Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood. Hum Genet. 102:1998;611-615.
    • (1998) Hum Genet , vol.102 , pp. 611-615
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  • 10
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    • First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
    • Ray P.F., Gigarel N., Bonnefont J.P., Attie T., Hamamah S., Frydman N., et al. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn. 20:2000;1048-1054.
    • (2000) Prenat Diagn , vol.20 , pp. 1048-1054
    • Ray, P.F.1    Gigarel, N.2    Bonnefont, J.P.3    Attie, T.4    Hamamah, S.5    Frydman, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.