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Volumn 30, Issue 9, 2010, Pages 893-898

Prevalence of steroid sulfatase deficiency in California according to race and ethnicity

Author keywords

California; Prevalence; Race ethnicity; Steroid sulfatase deficiency

Indexed keywords

ESTRIOL; STEROID;

EID: 77956155687     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2588     Document Type: Article
Times cited : (36)

References (26)
  • 2
    • 0024802646 scopus 로고
    • Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    • Ballabio A, Bardoni B, Carrozzo R, et al. 1989. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A 86: 10001-10005.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 10001-10005
    • Ballabio, A.1    Bardoni, B.2    Carrozzo, R.3
  • 3
    • 0001962515 scopus 로고    scopus 로고
    • Steroid sulfatase deficiency, X-linked ichthyosis
    • Scriver CR, Beaudet AL, Sly WS (eds.). McGraw-Hill: New York
    • Ballabio A, Shapiro LJ. 2001. Steroid sulfatase deficiency, X-linked ichthyosis. In The Metabolic, Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS (eds.). McGraw-Hill: New York; 4241-4262.
    • (2001) The Metabolic, Molecular Bases of Inherited Disease , pp. 4241-4262
    • Ballabio, A.1    Shapiro, L.J.2
  • 4
    • 0028206613 scopus 로고
    • Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome
    • Bartels I, Caesar J, Sancken U. 1994. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn 14: 227-229. (Pubitemid 24101564)
    • (1994) Prenatal Diagnosis , vol.14 , Issue.3 , pp. 227-229
    • Bartels, I.1    Caesar, J.2    Sancken, U.3
  • 5
    • 0031030569 scopus 로고    scopus 로고
    • Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups
    • Benn PA, Clive JM, Collins R. 1997. Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups. Clin Chem 43: 333-337.
    • (1997) Clin Chem , vol.43 , pp. 333-337
    • Benn, P.A.1    Clive, J.M.2    Collins, R.3
  • 6
    • 0030985036 scopus 로고    scopus 로고
    • Undetectable maternal serum unconjugated estriol levels in the second trimester: Risk of perinatal complications associated with placental sulfatase deficiency
    • Bradley LA, Canick JA, Palomaki GE, et al. 1997. Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency. Am J Obstet Gynecol 176: 531-535.
    • (1997) Am J Obstet Gynecol , vol.176 , pp. 531-535
    • Bradley, L.A.1    Canick, J.A.2    Palomaki, G.E.3
  • 7
    • 0033590680 scopus 로고    scopus 로고
    • Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses
    • Bradley LA, Palomaki GE, Knight GJ, et al. 1999. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 82: 355-358.
    • (1999) Am J Med Genet , vol.82 , pp. 355-358
    • Bradley, L.A.1    Palomaki, G.E.2    Knight, G.J.3
  • 8
    • 0031896109 scopus 로고    scopus 로고
    • Maternal weight differences do not explain ethnic differences in biochemical screening
    • Bryant-Greenwood PK, O'Brien JE, Huang X, et al. 1998. Maternal weight differences do not explain ethnic differences in biochemical screening. Fetal Diagn Ther 13: 46-48.
    • (1998) Fetal Diagn Ther , vol.13 , pp. 46-48
    • Bryant-Greenwood, P.K.1    O'Brien, J.E.2    Huang, X.3
  • 9
    • 8244233162 scopus 로고    scopus 로고
    • Effect of Hispanic ethnicity on interpretation of maternal serum screening
    • Byrne JL,Waller DK, Rose E, et al. 1997. Effect of Hispanic ethnicity on interpretation of maternal serum screening. Fetal Diagn Ther 12: 102-106. (Pubitemid 27243723)
    • (1997) Fetal Diagnosis and Therapy , vol.12 , Issue.2 , pp. 102-106
    • Byrne, J.L.B.1    Kim Waller, D.2    Rose, E.3    Elias, S.4
  • 10
    • 33749459449 scopus 로고    scopus 로고
    • Identifying Smith- Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome
    • Craig WY, Haddow JE, Palomaki GE, et al. 2006. Identifying Smith- Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn 26: 842-849.
    • (2006) Prenat Diagn , vol.26 , pp. 842-849
    • Craig, W.Y.1    Haddow, J.E.2    Palomaki, G.E.3
  • 11
    • 0028945267 scopus 로고
    • Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency
    • David M, Israel N, Merksamer R, et al. 1995. Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. Fetal Diagn Ther 10: 76-79.
    • (1995) Fetal Diagn Ther , vol.10 , pp. 76-79
    • David, M.1    Israel, N.2    Merksamer, R.3
  • 13
    • 0031850052 scopus 로고    scopus 로고
    • Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: A urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
    • Glass IA, Lam RC, Chang T, et al. 1998. Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes. Prenat Diagn 18: 789-800.
    • (1998) Prenat Diagn , vol.18 , pp. 789-800
    • Glass, I.A.1    Lam, R.C.2    Chang, T.3
  • 14
    • 0345059345 scopus 로고    scopus 로고
    • Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency
    • Jari SD, Fraer LM, Hogge WA. 2004. Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency. Fetal Diagn Ther 19: 43-48.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 43-48
    • Jari, S.D.1    Fraer, L.M.2    Hogge, W.A.3
  • 15
    • 50049104212 scopus 로고    scopus 로고
    • X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
    • Kent L, Emerton J, Bhadravathi V, et al. 2008. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 45: 519-524.
    • (2008) J Med Genet , vol.45 , pp. 519-524
    • Kent, L.1    Emerton, J.2    Bhadravathi, V.3
  • 16
    • 70349648495 scopus 로고    scopus 로고
    • Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
    • Langlois S, Armstrong L, Gall K, et al. 2009. Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols. Prenat Diagn 29: 966-974.
    • (2009) Prenat Diagn , vol.29 , pp. 966-974
    • Langlois, S.1    Armstrong, L.2    Gall, K.3
  • 17
    • 0021266564 scopus 로고
    • Placental steroid sulfatase deficiency: Biochemical diagnosis and clinical review
    • Lykkesfeldt G, Nielsen MD, Lykkesfeldt AE. 1984. Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review. Obstet Gynecol 64: 49-54.
    • (1984) Obstet Gynecol , vol.64 , pp. 49-54
    • Lykkesfeldt, G.1    Nielsen, M.D.2    Lykkesfeldt, A.E.3
  • 18
    • 67749088563 scopus 로고    scopus 로고
    • Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies
    • Marcos J, Craig WY, Palomaki GE, et al. 2009. Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. Prenat Diagn 29: 771-780.
    • (2009) Prenat Diagn , vol.29 , pp. 771-780
    • Marcos, J.1    Craig, W.Y.2    Palomaki, G.E.3
  • 19
    • 0031106593 scopus 로고    scopus 로고
    • Race-ethnicity-specific variation in multiple-marker biochemical screening: Alpha-fetoprotein, hCG, and estriol
    • O'Brien JE, Dvorin E, Drugan A, et al. 1997. Race-ethnicity-specific variation in multiple-marker biochemical screening: alpha-fetoprotein, hCG, and estriol. Obstet Gynecol 89: 355-358.
    • (1997) Obstet Gynecol , vol.89 , pp. 355-358
    • O'Brien, J.E.1    Dvorin, E.2    Drugan, A.3
  • 21
    • 0036227784 scopus 로고    scopus 로고
    • Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome
    • Palomaki GE, Bradley LA, Knight GJ, et al. 2002. Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen 9: 43-44.
    • (2002) J Med Screen , vol.9 , pp. 43-44
    • Palomaki, G.E.1    Bradley, L.A.2    Knight, G.J.3
  • 22
    • 0028787522 scopus 로고
    • Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening
    • Schleifer RA, Bradley LA, Richards DS, et al. 1995. Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening. Am J Obstet Gynecol 173: 1152-1156.
    • (1995) Am J Obstet Gynecol , vol.173 , pp. 1152-1156
    • Schleifer, R.A.1    Bradley, L.A.2    Richards, D.S.3
  • 23
    • 0024468929 scopus 로고
    • An Xp22 microdeletion associated with ocular albinism and ichthyosis: Approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
    • Schnur RE, Trask BJ, van den Engh G, et al. 1989. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. AM J Hum Genet 45: 706-720.
    • (1989) AM J Hum Genet , vol.45 , pp. 706-720
    • Schnur, R.E.1    Trask, B.J.2    Van Den Engh, G.3
  • 24
    • 0038384014 scopus 로고    scopus 로고
    • Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions
    • DOI 10.1016/S0029-7844(03)00370-3
    • Schoen E, Norem C, O'Keefe J, et al. 2003. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol 102: 167-172. (Pubitemid 36792141)
    • (2003) Obstetrics and Gynecology , vol.102 , Issue.1 , pp. 167-172
    • Schoen, E.1    Norem, C.2    O'Keefe, J.3    Krieger, R.4    Walton, D.5    To, T.T.6
  • 25
    • 38449096024 scopus 로고    scopus 로고
    • Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)
    • Shackleton CH, Marcos J, Palomaki GE, et al. 2007. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet A 143A: 2129-2136.
    • (2007) Am J Med Genet A , vol.143 A , pp. 2129-2136
    • Shackleton, C.H.1    Marcos, J.2    Palomaki, G.E.3
  • 26
    • 0018775439 scopus 로고
    • Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: A study of nine patients
    • Taylor NF, Shackleton CH. 1979. Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: a study of nine patients. J Clin Endocrinol Metab 49: 78-86.
    • (1979) J Clin Endocrinol Metab , vol.49 , pp. 78-86
    • Taylor, N.F.1    Shackleton, C.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.