메뉴 건너뛰기




Volumn 84, Issue 5, 1999, Pages 1505-1509

Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; HYDROXYPROGESTERONE;

EID: 0033311160     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.5.1505     Document Type: Article
Times cited : (95)

References (30)
  • 2
    • 0000851929 scopus 로고
    • Congenital adrenal hyperplasia
    • Scriver CR, Beaudet AL, Sly WS, Valk D, eds. The metabolic and molecular basis of disease, 7th ed. New York: McGraw-Hill
    • (1995) , pp. 2929-2966
    • Donohoue, P.A.1    Parker, K.2    Migeon, C.3
  • 13
    • 0027159735 scopus 로고
    • Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
    • (1993) Hum Mol Genet , vol.2 , pp. 499-504
    • Wedell, A.1    Luthman, H.2
  • 14
    • 0029934909 scopus 로고    scopus 로고
    • An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
    • (1996) Hum Genet , vol.98 , pp. 182-184
    • Lajic, S.1    Wedell, A.2
  • 26
    • 0000360188 scopus 로고
    • Congenital adrenal hyperplasia: Intellectual and psychosexual functioning
    • Holmes CS, eds. Psychoneuroendocrinology: brain, behavlour, and hormonal interactions. New York: Springer-Verlag
    • (1990) , pp. 227-260
    • Berenbaum, S.A.1
  • 30
    • 0023107831 scopus 로고
    • Four-year follow-up of psychological reaction to false positive screening test for congenital hypothyroidism
    • (1987) Acta Paediatr , vol.76 , pp. 107-114
    • Fyro, K.1    Bodegard, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.