Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.
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منابع مشابه
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
AIM Fabry disease is an X-linked lysosomal storage disorder characterized by an accumulation of neutral glycosphingolipids in multiple organ systems caused by alpha-galactosidase A deficiency due to mutations in the GLA gene. The majority of heterozygous females show the characteristic signs and symptoms of the disease, and some of them are severely affected. The current hypothesis for the occu...
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Introduction: X chromosome inactivation (XCI) is a process during which one of the two X chromosomes in female human is silenced leading to equal gene expression with males who have only one X chromosome. Here we have investigated XCI ratio in females with opioid addiction to see whether XCI skewness in women could be a risk factor for opioid addiction. Methods: 30 adult females meeting DS...
متن کاملEarly cerebral manifestations in a young female with Fabry disease with skewed X-inactivation
To the Editor : Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (αGal A). Accumulation of globotriaosylceramide (Gb3) in different cell types eventually leads to renal insufficiency, cardiomyopathy and central nervous system (CNS) involvement (1). CNS involvement is mainly characterized by white matter lesions (WMLs) and stro...
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EDITOR—Anderson-Fabry disease (AFD) is a sphingolipid storage disorder resulting from the deficiency of the lysosomal enzyme á-galactosidase. Unlike most other lysosomal diseases, the inheritance is X linked. Disease manifestations in female heterozygotes have been reported, but are considered to be rare and usually mild. Asymptomatic corneal dystrophy (cornea verticillata and posterior lenticu...
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Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
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عنوان ژورنال:
- Clinical genetics
دوره 80 5 شماره
صفحات -
تاریخ انتشار 2011