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9 Cards in this Set
- Front
- Back
Hemophilia A/B
|
factor VIII deficiency
increased PTT only |
|
Fragile X Syndrome
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trinucleotide repeat disorder
|
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Duchenne Muscular Dystrophy
|
Dystrophin gene
|
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Brutons' X-linked Agammaglobulinemia
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low CD19 and CD20
low antibodies IgG/A/M/E/D |
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Color Blindness
|
no cure
|
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Alport Syndrome
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glomerulonephritis
endstage kidney disease hearing loss |
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Fabry Disease
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lysosomal storage disease
alpha-galactokinase deficiency anhidrosis, fatigue, angiokeratoma, burning extremity pain, and ocular movement |
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Glucose 6 Phosphate Dehydrogenase Deficiency
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nonimmune hemolytic anemia
|
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Lesch-Nyhan syndrome
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deficient HGPRT
self mutilation hyperuricemia treatment: allopurinol |