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Volumn 68, Issue 3, 1997, Pages 315-321

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

Author keywords

7 dehydrocholesterol; autosomal recessive; bile acids; cholesterol; multiple congenital abnormalities mental retardation syndrome; multiple congenital anomalies syndrome; Smith Lemli Opitz syndrome

Indexed keywords

ARTICLE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; DIET SUPPLEMENTATION; FAT INTAKE; FEMALE; HUMAN; MALE; MENTAL DEFICIENCY; NEWBORN; PRIORITY JOURNAL; QUALITY OF LIFE; SMITH LEMLI OPITZ SYNDROME; TREATMENT OUTCOME;

EID: 0031050246     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<315::AID-AJMG13>3.0.CO;2-W     Document Type: Article
Times cited : (93)

References (8)
  • 2
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons M, Elias ER, Sälen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414.
    • (1993) Lancet , vol.341 , pp. 1414
    • Irons, M.1    Elias, E.R.2    Sälen, G.3    Tint, G.S.4    Batta, A.K.5
  • 3
    • 0028295496 scopus 로고
    • Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report of the clinical and biochemical findings in four patients and treatment in one patient
    • Irons M, Elias RE, Tint GS, Sälen G, Frieden R, Buie TM, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report of the clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50:347-352.
    • (1994) Am J Med Genet , vol.50 , pp. 347-352
    • Irons, M.1    Elias, R.E.2    Tint, G.S.3    Sälen, G.4    Frieden, R.5    Buie, T.M.6    Ampola, M.7
  • 4
    • 0018963505 scopus 로고
    • Borderline normal intelligence in SmithLemli-Opitz syndrome
    • Lowry R, Yong SL (1980): Borderline normal intelligence in SmithLemli-Opitz syndrome. Am J Med Genet 5:137-143.
    • (1980) Am J Med Genet , vol.5 , pp. 137-143
    • Lowry, R.1    Yong, S.L.2
  • 5
    • 0028268979 scopus 로고
    • Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis: Early dietary management
    • Nwokoro NA, Hyde B, Mulvihill JJ (1994): Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis: Early dietary management. Am J Med Genet 50:375-376.
    • (1994) Am J Med Genet , vol.50 , pp. 375-376
    • Nwokoro, N.A.1    Hyde, B.2    Mulvihill, J.J.3
  • 6
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 7
    • 0027377982 scopus 로고
    • Cholesterol defect in Smith-Lemli-Opitz syndrome
    • Tint GS (1993): Cholesterol defect in Smith-Lemli-Opitz syndrome (Letter to the Editor). Am J Med Genet 47:573-574.
    • (1993) Am J Med Genet , vol.47 , pp. 573-574
    • Tint, G.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.