Rare diseases, an emergent paradigm in the medicine of the XXI century

被引:22
作者
Palau, Francesc [1 ]
机构
[1] CSIC, IBV, CIBERER, ISCIII, Valencia, Spain
来源
MEDICINA CLINICA | 2010年 / 134卷 / 04期
关键词
HUNTINGTONS-DISEASE; CHALLENGE; DISORDERS; LESSONS;
D O I
10.1016/j.medcli.2009.06.038
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:161 / 168
页数:8
相关论文
共 30 条
  • [21] Martínez MI, 2003, MED CLIN-BARCELONA, V121, P299
  • [22] Repeat instability: Mechanisms of dynamic mutations
    Pearson, CE
    Edamura, KN
    Cleary, JD
    [J]. NATURE REVIEWS GENETICS, 2005, 6 (10) : 729 - 742
  • [23] Posada M, 2008, AN SIST SANIT NAVAR, V31, P9
  • [24] Sánchez-Valverde F, 2008, AN SIST SANIT NAVAR, V31, P5, DOI 10.4321/s1137-66272008000400001
  • [25] Why rare diseases are an important medical and social issue
    Schieppati, Arrigo
    Henter, Jan-Inge
    Daina, Erica
    Aperia, Anita
    [J]. LANCET, 2008, 371 (9629) : 2039 - 2041
  • [26] Solís-Pérez MP, 2001, NEUROLOGIA, V16, P348
  • [27] Human gene mutation database: towards a comprehensive central mutation database
    Stenson, P. D.
    Ball, E.
    Howells, K.
    Phillips, A.
    Mort, M.
    Cooper, D. N.
    [J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (02) : 124 - 126
  • [28] A journey of hope:: lessons learned from studies on rare diseases and orphan drugs
    Wästfelt, M.
    Fadeel, B.
    Henter, J. -I.
    [J]. JOURNAL OF INTERNAL MEDICINE, 2006, 260 (01) : 1 - 10
  • [29] RECOMMENDACION CONSE
  • [30] RARE DIS UNDERSTANDI