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Results 1 - 10 of 25 for "Hypercholesterolemia," autosomal recessive
  1. Genetics Home Reference: Hypercholesterolemia From the National Institutes of Health (National Library of Medicine)  
    ... are responsible for another type of inherited high cholesterol, autosomal recessive hypercholesterolemia (ARH). Proteins produced from the APOB , LDLRAP1 , ...
  2. Genetics Home Reference: Methylmalonic acidemia From the National Institutes of Health (National Library of Medicine)  
    ... understanding methylmalonic acidemia? acids ; aciduria ; amino acid ; autosomal ; autosomal recessive ; cell ; cholesterol ; chronic ; CoA ; cobalamin ; coma ; deficiency ; dehydration ; developmental delay ; ...
  3. Genetics Home Reference: Fish-eye disease From the National Institutes of Health (National Library of Medicine)  
    ... definitions help with understanding fish-eye disease? autosomal ; autosomal recessive ; cell ; cholesterol ; deficiency ; enzyme ; gene ; HDL ; LDL ; lipoprotein ; recessive ; VLDL ...
  4. ... cholesteryl ester storage disease? arteries ; artery ; atherosclerosis ; autosomal ; autosomal recessive ; cell ; cholesterol ; chronic ; cirrhosis ; enzyme ; esters ; excretion ; gene ; HDL ; heart ...
  5. ... help with understanding chylomicron retention disease? apolipoprotein ; autosomal ; autosomal recessive ; cell ; cholesterol ; chylomicrons ; failure to thrive ; gene ; HDL ; intestine ; LDL ; ...
  6. Genetics Home Reference: Bardet-Biedl syndrome From the National Institutes of Health (National Library of Medicine)  
    ... help with understanding Bardet-Biedl syndrome? anosmia ; autosomal ; autosomal recessive ; brachydactyly ; cell ; cholesterol ; diabetes ; digestive ; digestive system ; end-stage renal disease ; ...
  7. ... mevalonate kinase deficiency? acids ; aciduria ; amyloidosis ; ataxia ; autosomal ; autosomal recessive ; bile ; cell ; cholesterol ; cytoskeleton ; deficiency ; developmental delay ; differentiation ; enzyme ; epilepsy ; failure ...
  8. Genetics Home Reference: Propionic acidemia From the National Institutes of Health (National Library of Medicine)  
    ... understanding propionic acidemia? acids ; aciduria ; amino acid ; autosomal ; autosomal recessive ; carboxylase ; cell ; cholesterol ; CoA ; coma ; deficiency ; enzyme ; fasting ; fever ; gene ; hypotonia ; ...
  9. Genetics Home Reference: Sitosterolemia From the National Institutes of Health (National Library of Medicine)  
    ... sitosterolemia? Achilles tendon ; anemia ; arteries ; artery ; atherosclerosis ; autosomal ; autosomal recessive ; bile ; cell ; cholesterol ; clotting ; feces ; gene ; heart attack ; hemolysis ; hemolytic anemia ; ...
  10. Genetics Home Reference: Greenberg dysplasia From the National Institutes of Health (National Library of Medicine)  
    ... definitions help with understanding Greenberg dysplasia? acids ; autosomal ; autosomal recessive ; calcification ; calcium ; cell ; cholesterol ; digestive ; domain ; dysplasia ; ectopic ; embryonic ; fetus ; gene ; hydrops ...
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