Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

被引：11

作者：

Bouwman, M. G. ^{[1
]}

Rombach, S. M. ^{[2
]}

Linthorst, G. E. ^{[2
]}

Poorthuis, B. J. H. M. ^{[3
]}

Deprez, R. H. Lekanne ^{[4
]}

Aerts, J. M. F. G. ^{[3
]}

Wijburg, F. A. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Paediat, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Endocrinol & Metab, NL-1105 AZ Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Med Biochem, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

来源：

CLINICAL GENETICS | 2011年 / 80卷 / 05期

关键词：

GALACTOSIDASE-A GENE; ALPHA-GALACTOSIDASE; CLINICAL-MANIFESTATIONS; CHROMOSOME INACTIVATION; HETEROZYGOTES; EXPRESSION; MUTATIONS; CARRIERS; CHILDREN; STORAGE;

D O I：

10.1111/j.1399-0004.2011.01643.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：500 / 502

页数：3

共 24 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] Radiological evidence of early cerebral microvascular disease in young children with Fabry disease [J].

Cabrera-Salazar, MA ;

O'Rourke, E ;

Charria-Ortiz, G ;

Barranger, JA .

JOURNAL OF PEDIATRICS, 2005, 147 (01) :102-105

[3] Natural history of Fabry disease in females in the Fabry outcome survey [J].

Deegan, PB ;

Baehner, AF ;

Romero, MAB ;

Hughes, DA ;

Kampmann, C ;

Beck, M .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) :347-352

[4] Relationship between X-inactivation and clinical involvement in Fabry heterozygotes.: Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population [J].

Dobrovolny, R ;

Dvorakova, L ;

Ledvinova, J ;

Magage, S ;

Bultas, J ;

Lubanda, JC ;

Elleder, M ;

Karetova, D ;

Pavlikova, M ;

Hrebicek, M .

JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (08) :647-654

[5] 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

[6] CNS manifestations of Fabry's disease [J].

Fellgiebel, Andreas ;

Mueller, Matthias J. ;

Ginsberg, Lionel .

LANCET NEUROLOGY, 2006, 5 (09) :791-795

[7]

GREWAL RP, 1994, J NEUROL, V241, P153

[8] The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease a cross-sectional study of a large cohort of clinically affected heterozygous women [J].

Gupta, S ;

Ries, M ;

Kotsopoulos, S ;

Schiffmann, R .

MEDICINE, 2005, 84 (05) :261-268

[9] Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism [J].

Lau, AW ;

Brown, CJ ;

Peñaherrera, M ;

Langlois, S ;

Kalousek, DK ;

Robinson, WP .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) :1353-1361

[10] Disease manifestations and X inactivation in heterozygous females with Fabry disease [J].

Maier, Esther M. ;

Osterrieder, Stephanie ;

Whybra, Catharina ;

Ries, Markus ;

Gal, Andreas ;

Beck, Michael ;

Roscher, Adelbert A. ;

Muntau, Ania C. .

ACTA PAEDIATRICA, 2006, 95 :30-38

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