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Volumn 24, Issue 12, 2004, Pages 962-964

Prenatal diagnosis of propionic acidemia

Author keywords

Chorionic villi; Direct molecular genetics; Organic acidemia; Propionyl CoA carboxylase

Indexed keywords

PROPIONYL COENZYME A CARBOXYLASE;

EID: 10844235559     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1057     Document Type: Review
Times cited : (20)

References (12)
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    • Campeau, E.1    Desviat, L.R.2    Leclerc, D.3
  • 4
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    • A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
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  • 5
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    • Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases
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    • (1991) Prenat Diagn , vol.11 , pp. 691-696
    • Kamoun, P.P.1    Chadefaux, B.2
  • 6
    • 2442720651 scopus 로고    scopus 로고
    • Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
    • Muro S, Perez-Cerda C, Rodriguez-Pombo P, et al. 1999. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. J Med Genet 36: 412-414.
    • (1999) J Med Genet , vol.36 , pp. 412-414
    • Muro, S.1    Perez-Cerda, C.2    Rodriguez-Pombo, P.3
  • 7
    • 0018955772 scopus 로고
    • Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia
    • Naylor G, Sweetman L, Nyhan WL, et al. 1980. Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin Chim Acta 107: 175-183.
    • (1980) Clin Chim Acta , vol.107 , pp. 175-183
    • Naylor, G.1    Sweetman, L.2    Nyhan, W.L.3
  • 8
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    • Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia
    • Pérez-Cerdá C, Merinero B, Sanz P, et al. 1989. Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia. J Inherit Metab Dis 12(Suppl 2): 274-276.
    • (1989) J Inherit Metab Dis , vol.12 , Issue.SUPPL. 2 , pp. 274-276
    • Pérez-Cerdá, C.1    Merinero, B.2    Sanz, P.3
  • 9
    • 1642632932 scopus 로고    scopus 로고
    • Human propionyl-CoA carboxylase beta subunit gene: Exonintron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients
    • Rodriguez-Pombo P, Hoenicka J, Muro S, et al. 1998. Human propionyl-CoA carboxylase beta subunit gene: exonintron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Am J Hum Genet 63: 360-369.
    • (1998) Am J Hum Genet , vol.63 , pp. 360-369
    • Rodriguez-Pombo, P.1    Hoenicka, J.2    Muro, S.3
  • 10
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    • Acylcarnitines in amniotic fluid: Application to the prenatal diagnosis of propionic acidaemia
    • Van Hove JL, Chace DH, Kahler SG, Millington DS. 1993. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis 16: 361-367.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 361-367
    • Van Hove, J.L.1    Chace, D.H.2    Kahler, S.G.3    Millington, D.S.4
  • 11
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    • Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria
    • Weyler W, Sweetman L, Maggio DC, Nyhan WL. 1977. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta 76: 321-328.
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  • 12
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    • Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles
    • Zlotogora J. 2004. Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles. Hum Genet 114: 521-526.
    • (2004) Hum Genet , vol.114 , pp. 521-526
    • Zlotogora, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.