Natural history of Fabry disease in affected males and obligate carrier females

被引：74
|
作者：
MacDermot, KD [1 ]
Holmes, A
Miners, AH
机构：
[1] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England
[2] UCL, Sch Med, London NW3 2QG, England
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷
关键词：
D O I：
10.1023/A:1012447102358
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：13 / 14
页数：2
相关论文
共 50 条
  • [11] The Natural History of Fabry Disease
    Warnock, David G.
    CLINICAL THERAPEUTICS, 2010, 32 : S101 - S102
  • [12] Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
    Eng, C. M.
    Fletcher, J.
    Wilcox, W. R.
    Waldek, S.
    Scott, C. R.
    Sillence, D. O.
    Breunig, F.
    Charrow, J.
    Germain, D. P.
    Nicholls, K.
    Banikazemi, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (02) : 184 - 192
  • [13] The Fabry registry demonstrates heterogeneity of renal progression in 833 males and females with Fabry disease
    Ortiz, A.
    Oliveira, J. P.
    Cianciaruso, B.
    Waldek, S.
    Wanner, C.
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 : 4 - 4
  • [14] The Fabry registry demonstrates heterogeneity of renal progression in 833 males and females with Fabry disease
    Ortiz, A.
    Oliveira, J. P.
    Cianciaruso, B.
    Waldek, S.
    Wanner, C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 72 - 72
  • [15] CHARACTERIZATION OF CARRIER FEMALES AND AFFECTED MALES WITH X-LINKED RECESSIVE NEPHROLITHIASIS
    REINHART, SC
    NORDEN, AGW
    LAPSLEY, M
    THAKKER, RV
    PANG, J
    MOSES, AM
    FRYMOYER, PA
    FAVUS, MJ
    HOEPNER, JA
    SCHEINMAN, SJ
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1995, 5 (07): : 1451 - 1461
  • [16] Immunohistochemical assessment of epidermal nerve fibers in males and females with Fabry disease
    Bertelsen, AK
    Ericson, ME
    Benlhabib, E
    Hordinsky, MK
    Mellgren, SI
    Wilcox, GL
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2005, 10 : 7 - 7
  • [17] Understanding the natural history of Fabry disease: The Fabry registry
    Charrow, J
    Banikazemi, M
    Barranger, J
    Clark, L
    Eng, CM
    Hopkin, R
    Pastores, G
    Scott, CR
    Sims, K
    Wilcox, W
    PEDIATRIC RESEARCH, 2004, 55 (04) : 274A - 274A
  • [18] Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
    Waldek, Stephen
    Patel, Manesh R.
    Banikazemi, Matyam
    Lemay, Roberta
    Lee, Philip
    GENETICS IN MEDICINE, 2009, 11 (11) : 790 - 796
  • [19] LIFE EXPECTANCY AND CAUSE OF DEATH IN MALES AND FEMALES WITH FABRY DISEASE: FINDINGS FROM THE FABRY REGISTRY
    Waldek, S.
    Patel, M. R.
    Banikazemi, M.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 59 - 59
  • [20] Natural history of Fabry disease.
    Banikazemi, M
    Schiffmann, R
    Bultas, J
    Linthorst, GE
    Packman, S
    Sorensen, SA
    Wilcox, WR
    Desnick, RJ
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 : 115A - 115A
12345