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Volumn 44, Issue 3, 2014, Pages 332-333

Fresh frozen plasma as a source of cholesterol for newborn with smith-lemli-opitz syndrome associated with defective cholesterol synthesis

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; FRESH FROZEN PLASMA; OXIDOREDUCTASE; UNCLASSIFIED DRUG; 7 DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL REDUCTASE;

EID: 84906271652     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (8)
  • 1
    • 0033813628 scopus 로고    scopus 로고
    • Smith-Lemli-Optiz syndrome: the first malformation syndrome associated with defective cholesterol synthesis
    • Battaile KP, Steiner RD. Smith-Lemli-Optiz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Mol Genet Metab 2000;71:154-62.
    • (2000) Mol Genet Metab , vol.71 , pp. 154-162
    • Battaile, K.P.1    Steiner, R.D.2
  • 3
    • 0028323515 scopus 로고
    • Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference
    • Opitz Jm, de la Cruz F. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference. Am J Med Genet. 1994;50:326-38.
    • (1994) Am J Med Genet. , vol.50 , pp. 326-338
    • Opitz, J.M.1    de la Cruz, F.2
  • 4
    • 0028295496 scopus 로고
    • Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient
    • Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 1994;50:347-52.
    • (1994) Am J Med Genet , vol.50 , pp. 347-352
    • Irons, M.1    Elias, E.R.2    Tint, G.S.3    Salen, G.4    Frieden, R.5    Buie, T.M.6    Ampola, M.7
  • 6
    • 0031050246 scopus 로고    scopus 로고
    • Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome
    • Nwokoro NA, Mulvihill JJ, Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am.J. Med Genet. 1997;68:315-21.
    • (1997) Am.J. Med Genet. , vol.68 , pp. 315-321
    • Nwokoro, N.A.1    Mulvihill, J.J.2
  • 7
    • 0033609510 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation
    • Nowaczyk MJ, Whelan DT, Heshka TW, Hill RE. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. CMAJ 1999;161:165-70.
    • (1999) CMAJ , vol.161 , pp. 165-170
    • Nowaczyk, M.J.1    Whelan, D.T.2    Heshka, T.W.3    Hill, R.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.