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Volumn 151, Issue 21, 2007, Pages 1174-1177

From gene to disease: Adrogenital syndrome and the CYP21A2 gene;Van gen naar ziekte; het adrenogenitaal syndroom en het CYP21A2-gen

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; HYDROCORTISONE; STEROID 21 MONOOXYGENASE; ANDROSTENEDIONE; HYDROXYPROGESTERONE;

EID: 34447093375     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (8)
  • 1
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
    • White PC, Speiser PW. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Endocr Rev. 2000;21:245-91.
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 2
    • 0042466547 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349:776-88.
    • (2003) N Engl J Med , vol.349 , pp. 776-788
    • Speiser, P.W.1    White, P.C.2
  • 3
    • 10744231204 scopus 로고    scopus 로고
    • Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise
    • Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, et al. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab. 2004; 89:591-7.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 591-597
    • Weise, M.1    Mehlinger, S.L.2    Drinkard, B.3    Rawson, E.4    Charmandari, E.5    Hiroi, M.6
  • 4
    • 0036726640 scopus 로고    scopus 로고
    • Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
    • Joint LWPES/ESPE CAH Working Group
    • Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. 2002;87:4048-53.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4048-4053
  • 5
    • 0042901202 scopus 로고
    • Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
    • Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA. 1986;83:2841-5.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2841-2845
    • Higashi, Y.1    Yoshioka, H.2    Yamane, M.3    Gotoh, O.4    Fujii-Kuriyama, Y.5
  • 6
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 1994;78:1145-52.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1145-1152
    • Wedell, A.1    Thilen, A.2    Ritzen, E.M.3    Stengler, B.4    Luthman, H.5
  • 7
    • 0037045528 scopus 로고    scopus 로고
    • Het adrenogenitaal syndroom: Klinische aspecten en neonatale screening
    • Stikkelbroeck MML, Otten BJ. Het adrenogenitaal syndroom: klinische aspecten en neonatale screening. Ned Tijdschr Geneeskd. 2002; 146:246-9.
    • (2002) Ned Tijdschr Geneeskd , vol.146 , pp. 246-249
    • Stikkelbroeck, M.M.L.1    Otten, B.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.