Fabry disease - an overview for a dermatologist
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چکیده
منابع مشابه
An Overview of Immunogenetic in Celiac Disease
Introduction: Celiac disease is an autoimmune disease caused by persistent intolerance to gluten, which is causedin people who are genetically predisposed. The disease presents with atrophy of the small intestinal mucosa and gastrointestinal and extra-gastrointestinal manifestations.Environmental factors like gluten and genetic factors such as HLA and non-HLA genes are involved in causing the d...
متن کاملPulmonary involvement in Fabry disease: overview and perspectives.
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline ...
متن کاملfabry disease (a kind of lysosomal storage disease)
how to cite this article: karimzadeh p. fabery disease (a kind of lysosomal storage disease). iran j child neurol autumn 2012; 6:4(suppl. 1):6. pls see pdf.
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متن کاملFabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...
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ژورنال
عنوان ژورنال: Dermatologie pro praxi
سال: 2017
ISSN: 1802-2960,1803-5337
DOI: 10.36290/der.2017.013