X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease

被引：18

作者：

Germain, D. P. ^{[1
,2
]}

Benistan, K. ^{[2
]}

Angelova, L. ^{[3
]}

机构：

[1] Univ Versailles St Quentin Yvelines UVSQ, Fac Med Paris Ile France Ouest PIFO, Versailles, France

[2] CHU Raymond Poincare, AP HP, Ctr Reference Malad Fabry & Malad Hereditaires Ti, Div Med Genet, F-92380 Garches, France

[3] Univ Varna, Med Genet Lab, Sr Marina Hosp, Varna 9010, Bulgaria

来源：

REVUE DE MEDECINE INTERNE | 2010年 / 31卷

关键词：

Fabry disease; Lysosomal storage disease; ENZYME REPLACEMENT THERAPY; CLINICAL MANIFESTATIONS; HETEROZYGOUS FEMALES; MASS-SPECTROMETRY; MALES; INVOLVEMENT; GLOBOTRIAOSYLCERAMIDE; GLYCOSPHINGOLIPIDS; INACTIVATION; DOMINANT;

D O I：

10.1016/S0248-8663(10)70013-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：S209 / S213

页数：5

共 48 条

[1] Elevated globotriaosylsphingosine is a hallmark of Fabry disease [J].

Aerts, Johannes M. ;

Groener, Johanna E. ;

Kuiper, Sijmen ;

Donker-Koopman, Wilma E. ;

Strijland, Anneke ;

Ottenhoff, Roelof ;

van Roomen, Cindy ;

Mirzaian, Mina ;

Wijburg, Frits A. ;

Linthorst, Gabor E. ;

Vedder, Anouk C. ;

Rombach, Saskia M. ;

Cox-Brinkman, Josanne ;

Somerharju, Pentti ;

Boot, Rolf G. ;

Hollak, Carla E. ;

Brady, Roscoe O. ;

Poorthuis, Ben J. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (08) :2812-2817

[2]

ALBAY D, 2004, MOD PATHOL

[3] Mass urinary screening for Fabry disease: Is it feasible? [J].

Auray-Blais, Christiane ;

Cyr, Denis ;

Clarke, Joe T. R. ;

Drouin, Rigen .

MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) :S15-S15

[4]

Cassidy SB., 2005, Management of Genetic Syndromes, V2nd

[5] Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females [J].

Conti, G ;

Sergi, B .

ACTA PAEDIATRICA, 2003, 92 :33-37

[6] Inheritance of most X-linked traits is not dominant or recessive, just X-linked [J].

Dobyns, WB ;

Filauro, A ;

Tomson, BN ;

Chan, AS ;

Ho, AW ;

Ting, NT ;

Oosterwijk, JC ;

Ober, C .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (02) :136-143

[7] Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry [J].

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

[8] Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement [J].

Eng, Christine M. ;

Germain, Dominique P. ;

Banikazemi, Maryam ;

Warnock, David G. ;

Wanner, Christoph ;

Hopkin, Robert J. ;

Bultas, Jan ;

Lee, Philip ;

Sims, Katherine ;

Brodie, Scott E. ;

Pastores, Gregory M. ;

Strotmann, Joerg M. ;

Wilcox, William R. .

GENETICS IN MEDICINE, 2006, 8 (09) :539-548

[9] White matter lesion severity in male and female patients with Fabry disease [J].

Fellgiebel, A ;

Müller, MJ ;

Mazanek, M ;

Baron, K ;

Beck, M ;

Stoeter, P .

NEUROLOGY, 2005, 65 (04) :600-602

[10] X-inactivation and human disease: X-linked dominant male-lethal disorders [J].

Franco, Brunella ;

Ballabio, Andrea .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2006, 16 (03) :254-259

← 1 2 3 4 5 →