Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
9 Cards in this Set
- Front
- Back
|
Hemophilia A/B
|
factor VIII deficiency
increased PTT only |
|
|
Fragile X Syndrome
|
trinucleotide repeat disorder
|
|
|
Duchenne Muscular Dystrophy
|
Dystrophin gene
|
|
|
Brutons' X-linked Agammaglobulinemia
|
low CD19 and CD20
low antibodies IgG/A/M/E/D |
|
|
Color Blindness
|
no cure
|
|
|
Alport Syndrome
|
glomerulonephritis
endstage kidney disease hearing loss |
|
|
Fabry Disease
|
lysosomal storage disease
alpha-galactokinase deficiency anhidrosis, fatigue, angiokeratoma, burning extremity pain, and ocular movement |
|
|
Glucose 6 Phosphate Dehydrogenase Deficiency
|
nonimmune hemolytic anemia
|
|
|
Lesch-Nyhan syndrome
|
deficient HGPRT
self mutilation hyperuricemia treatment: allopurinol |
