메뉴 건너뛰기




Volumn 27, Issue , 2014, Pages 234-256

Rare diseases research and practice

Author keywords

[No Author keywords available]

Indexed keywords

ORPHAN DRUG;

EID: 84925719013     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000363670     Document Type: Article
Times cited : (11)

References (49)
  • 2
    • 84925818108 scopus 로고    scopus 로고
    • Decision No 1295/99/EC of the European Parliament and of the Council of 29 April
    • European Commission: Programme of community action on rare diseases (1999-2003). Decision No. 1295/99/EC of the European Parliament and of the Council of 29 April 1999. http://ec.europa.eu/health/archive/ph-overview/previous-programme/rare-diseases/raredis-wpgm99-en.pdf.
    • (1999) Programme of Community Action on Rare Diseases (1999-2003)
    • European Commission1
  • 5
    • 84925777594 scopus 로고    scopus 로고
    • Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's challenges. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=CELEX:52008DC0679:EN:NOT.
    • Europe's Challenges
    • Commission to the European Parliament1
  • 6
    • 84863776054 scopus 로고    scopus 로고
    • Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)
    • Council of the European Union: Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). Off J Eur Union 2009;C151: 7-10. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF.
    • (2009) Off J Eur Union , vol.C151 , pp. 7-10
    • Council of the European Union1
  • 7
    • 84867331924 scopus 로고    scopus 로고
    • Directives. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in crossborder healthcare
    • European Parliament and the Council of the European Union: Directives. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in crossborder healthcare. Off J Eur Union 2011;L88: 45-65. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2011:088:0045:0065:EN:PDF.
    • (2011) Off J Eur Union , vol.L88 , pp. 45-65
    • European Parliament and the Council of the European Union1
  • 12
    • 79952050558 scopus 로고    scopus 로고
    • National plans and strategies on rare diseases in Europe
    • Taruscio D, Vittozzi L, Stefanov R: National plans and strategies on rare diseases in Europe. Adv Exp Med Biol 2010; 686: 475-491.
    • (2010) Adv Exp Med Biol , vol.686 , pp. 475-491
    • Taruscio, D.1    Vittozzi, L.2    Stefanov, R.3
  • 22
    • 84878008494 scopus 로고    scopus 로고
    • Identifying translational science within the triangle of biomedicine
    • Weber GM: Identifying translational science within the triangle of biomedicine. J Transl Med 2013; 24: 126.
    • (2013) J Transl Med , vol.24 , pp. 126
    • Weber, G.M.1
  • 24
    • 84899940552 scopus 로고    scopus 로고
    • New and evolving rare diseases research programs at the National Institutes of Health
    • Groft SC, Rubinstein YR: New and evolving rare diseases research programs at the National Institutes of Health. Public Health Genomics 2013; 16: 259-267.
    • (2013) Public Health Genomics , vol.16 , pp. 259-267
    • Groft, S.C.1    Rubinstein, Y.R.2
  • 33
    • 33745773870 scopus 로고    scopus 로고
    • Consensus statement on management of intersex disorders
    • Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group, ESPE Consensus Group: Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563.
    • (2006) Arch Dis Child , vol.91 , pp. 554-563
    • Hughes, I.A.1    Houk, C.2    Ahmed, S.F.3    Lee, P.A.4
  • 35
    • 84864914283 scopus 로고    scopus 로고
    • Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: The Swedish experience and standpoint
    • Hirvikoski T, Nordenström A, Wedell A, Ritzén M, Lajic S: Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. J Clin Endocrinol Metab 2012; 97: 1881-1883.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 1881-1883
    • Hirvikoski, T.1    Nordenström, A.2    Wedell, A.3    Ritzén, M.4    Lajic, S.5
  • 36
    • 83155190148 scopus 로고    scopus 로고
    • Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: Guidance from the CARES Foundation Initiative
    • Auchus RJ, Witchel SF, Leight KR, et al: Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: guidance from the CARES Foundation Initiative. Int J Pediatr Endocrinol 2010; 2010: 27521.
    • (2010) Int J Pediatr Endocrinol , vol.2010 , pp. 27521
    • Auchus, R.J.1    Witchel, S.F.2    Leight, K.R.3
  • 37
    • 0034454008 scopus 로고    scopus 로고
    • Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia
    • Merke DP, Keil MF, Jones JV, Fields J, Hill S, Cutler GB Jr: Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2000; 85: 1114-1120.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1114-1120
    • Merke, D.P.1    Keil, M.F.2    Jones, J.V.3    Fields, J.4    Hill, S.5    Cutler, G.B.6
  • 38
    • 79960713690 scopus 로고    scopus 로고
    • Growth hormone treatment in children with congenital adrenal hyperplasia
    • Harbison MD, Lin-Su K, New MI: Growth hormone treatment in children with congenital adrenal hyperplasia. Adv Exp Med Biol 2011; 707: 107.
    • (2011) Adv Exp Med Biol , vol.707 , pp. 107
    • Harbison, M.D.1    Lin-Su, K.2    New, M.I.3
  • 39
    • 65349104762 scopus 로고    scopus 로고
    • Consensus statement on the use of gonadotropin-releasing hormone analogs in children
    • Carel JC, Eugster EA, Rogol A, Ghizzoni L, Palmert MR, ESPE-LWPES GnRH Analogs Consensus Conference Group: Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics 2009; 123:e752-e762.
    • (2009) Pediatrics , vol.123 , pp. e752-e762
    • Carel, J.C.1    Eugster, E.A.2    Rogol, A.3    Ghizzoni, L.4    Palmert, M.R.5
  • 40
    • 84895922678 scopus 로고    scopus 로고
    • An oral multiparticulate, modified-release, hydrocortisone replacement therapy that provides physiological cortisol exposure
    • Whitaker MJ, Debono M, Huatan H, Merke DP, Arlt W, Ross RJ: An oral multiparticulate, modified-release, hydrocortisone replacement therapy that provides physiological cortisol exposure. Clin Endocrinol 2014; 80: 554-561.
    • (2014) Clin Endocrinol , vol.80 , pp. 554-561
    • Whitaker, M.J.1    Debono, M.2    Huatan, H.3    Merke, D.P.4    Arlt, W.5    Ross, R.J.6
  • 41
    • 84870517522 scopus 로고    scopus 로고
    • Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development
    • Hiort O, Wunsch L, Cools M, Looijenga L, Cuckow P: Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development. J Pediatr Urol 2012; 8: 624-628.
    • (2012) J Pediatr Urol , vol.8 , pp. 624-628
    • Hiort, O.1    Wunsch, L.2    Cools, M.3    Looijenga, L.4    Cuckow, P.5
  • 42
    • 84882420199 scopus 로고    scopus 로고
    • The European disorder of sex development registry: A virtual research environment
    • Ahmed SF, Rodie M, Jiang J, Sinnott RO: The European disorder of sex development registry: a virtual research environment. Sex Dev 2010; 4: 192-198.
    • (2010) Sex Dev , vol.4 , pp. 192-198
    • Ahmed, S.F.1    Rodie, M.2    Jiang, J.3    Sinnott, R.O.4
  • 43
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system
    • Newborn screening: toward a uniform screening panel and system. Genet Med 2006; 8(suppl 1):1S- 252S.
    • (2006) Genet Med , vol.8 , pp. 1S-252S
  • 44
    • 84867015077 scopus 로고    scopus 로고
    • Universal screening for inherited metabolic diseases in the neonate (and the fetus)
    • Scala I, Parenti G, Andria G: Universal screening for inherited metabolic diseases in the neonate (and the fetus). J Matern Fetal Neonatal Med 2012; 25( suppl 5):4-6.
    • (2012) J Matern Fetal Neonatal Med , vol.25 , pp. 4-6
    • Scala, I.1    Parenti, G.2    Andria, G.3
  • 45
    • 84882299078 scopus 로고    scopus 로고
    • Impact of molecular genetics on congenital adrenal hyperplasia management
    • Balsamo A, Baldazzi L, Menabò S, Cicognani A: Impact of molecular genetics on congenital adrenal hyperplasia management. Sex Dev 2010; 4: 233-248.
    • (2010) Sex Dev , vol.4 , pp. 233-248
    • Balsamo, A.1    Baldazzi, L.2    Menabò, S.3    Cicognani, A.4
  • 46
    • 84931468497 scopus 로고    scopus 로고
    • Secretary, US Department of Health and Human Services
    • Howell RR: Letter to Michael Leavitt, Secretary, US Department of Health and Human Services. http://www.hrsa.gov/heritabledisorderscommittee/correspondence/sep2005letter.htm.
    • Letter to Michael Leavitt
    • Howell, R.R.1
  • 47
    • 84925752038 scopus 로고    scopus 로고
    • Disputes over research with residual newborn screening blood specimens
    • Maschke KJ: Disputes over research with residual newborn screening blood specimens. Bioethics Forum, Hastings Center Report, 2009. http://www.thehastingscenter.org/Bioethicsforum/Post.aspx?id=3826.
    • (2009) Bioethics Forum Hastings Center Report
    • Maschke, K.J.1
  • 49
    • 84882383246 scopus 로고    scopus 로고
    • Importance of support groups for intersex (disorders of sex development) patients, families and the medical profession
    • Cull ML, Simmonds M: Importance of support groups for intersex (disorders of sex development) patients, families and the medical profession. Sex Dev 2010; 4: 310-312.
    • (2010) Sex Dev , vol.4 , pp. 310-312
    • Cull, M.L.1    Simmonds, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.