Clinical and genetic analysis of 4 heterozygous female patients with Fabry disease

被引:0
|
作者
Nagasaki, A. [1 ]
Nishie, W. [1 ]
Sawamura, D. [2 ]
Oba, I. [3 ]
Shimizu, H. [1 ]
机构
[1] Hokkaido Univ, Dept Dermatol, Grad Sch Med, Sapporo, Hokkaido, Japan
[2] Hirosaki Univ, Dept Dermatol, Grad Sch Med, Hirosaki, Aomori, Japan
[3] Sendai Shakaihoken Hosp, Dept Nephrol, Sendai, Miyagi, Japan
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
712
引用
收藏
页码:S119 / S119
页数:1
相关论文
共 50 条
  • [1] QUALITY OF LIFE IN 13 FEMALE PATIENTS HETEROZYGOUS FOR FABRY DISEASE
    Jurecka, A.
    Zuraw, W.
    Golnicki, D.
    Tylki-Szymanska, A.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 69 - 69
  • [2] Clinical and genetic analysis of Fabry disease: Report of six cases including three heterozygous females
    Nagasaki, Akari
    Nishie, Wataru
    Sato, Kozo
    Oba, Ikuko
    Noguchi, Emiko
    Akitsu, Hideki
    Sawamura, Daisuke
    Shimizu, Hiroshi
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2008, 52 (01) : 61 - 64
  • [3] Clinical manifestation in female Fabry disease patients
    Whybra, C
    Wendrich, K
    Ries, M
    Gal, A
    Beck, M
    RARE KIDNEY DISEASES, 2001, 136 : 245 - 250
  • [4] Clinical presentation in female patients with Fabry disease
    Guffon, N
    JOURNAL OF MEDICAL GENETICS, 2003, 40 (04)
  • [5] Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female
    Mignani, Renzo
    Preda, Paola
    Granata, Antonio
    Maldini, Laura
    De Giovanni, Paola
    Montevecchi, Marcello
    Rigotti, Angelo
    Cagnoli, Leonardo
    CLINICAL KIDNEY JOURNAL, 2009, 2 (06): : 455 - 457
  • [6] CARDIAC AND RENAL MANIFESTATIONS OF FABRY DISEASE IN A HETEROZYGOUS FEMALE
    Burka, Semenawit
    Flores, Eduardo D.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2024, 83 (13) : 4440 - 4440
  • [7] A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients
    Hopkin, Robert J.
    Germain, Dominique P.
    Bichet, Daniel G.
    Gruskin, Daniel J.
    Lemay, Roberta M.
    Oliveira, Joao P.
    Politei, Juan M.
    Wanner, Christoph
    Wilcox, William R.
    Yoo, Han-Wook
    Warnock, David G.
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S65 - S66
  • [8] Foam cells nephropathy in heterozygous female carrier of Fabry's disease
    Vera-Sempere, FJ
    García, A
    Sánchez, MA
    Moll, JL
    Pérez, A
    NEFROLOGIA, 2002, 22 (03): : 287 - 292
  • [9] An asymptomatic heterozygous female with Fabry disease: Implications for enzyme replacement therapy
    Migita, Makoto
    Hayakawa, Mari
    Ishizaki, Masainichi
    Sakuraba, Hitoshi
    Shimada, Takashi
    Fukunaga, Yoshitaka
    MOLECULAR GENETICS AND METABOLISM, 2007, 92 (04) : S30 - S31
  • [10] Clinical management of female patients with Fabry disease based on expert consensus
    Brand, Eva
    Linhart, Ales
    Deegan, Patrick
    Jurcut, Ruxandra
    Pisani, Antonio
    Torra, Roser
    Feldt-Rasmussen, Ulla
    ORPHANET JOURNAL OF RARE DISEASES, 2025, 20 (01)