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14 Cards in this Set
- Front
- Back
familial hypercholesteremia
|
AD
defective LDL receptors xanthomas |
|
marfan
|
AD
fibrillin ectopia lentis |
|
neurofibromatosis
|
AD
NF-1 gap cafe au lets, lisch nodules |
|
von hippel
|
AD
hemiangioblastoma adenoma |
|
tay sachs
|
AR
lysosymal dz hexosaminidase cherry red blindness jewish |
|
niemann pick
|
AR
lysosomal sphingomylinase high cholesterol foamy histoctyes |
|
von gierkes
|
AR
glucose 6 P glycogen storage dz hypoglycemia hepatomegaly |
|
pompe
|
AR
1,4 glucosidase splenomegaly hypglycemia |
|
PKU
|
AR
phenylalanine hydroxylase blond blue mousy cerebral demylination |
|
alkaptouria
|
AR
homogenistic oxidase black urine |
|
maple syrup
|
AR
branched chain a keto acid deh high keto acid in urine |
|
cystic fibrosis
|
AR
CFTR 7 phenylalanine F508 chronic pulm dz meconium ileus panc insuff increase cl in sweat |
|
hemophelia
|
X
8 deficient |
|
lesch nyhan
|
x
HGPRT purine metabolish gout self mutilation aggressive |