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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