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4 Cards in this Set
- Front
- Back
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What is the inheritance pattern of Fabry's disease?
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X-linked recessive
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What is the metabolic derangement in Fabry's disease>
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Deficiency of alpha-galactosidase A
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What are the systemic manifestations of Fabry's disease?
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paresthesias, renal insufficiency, vascular insufficiency of CV or CNS system
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What are the clinical features of a ataxia-telangiectasia? (6)
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1) cutaneous and ocular
2) telangiectasia 3) cerebellar ataxia 4) choreoathetosis 5) IgA deficiency 6) recurrent pulmonary infections |
