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Results 1 - 10 of 36 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: Smith-Lemli-Opitz syndrome From the National Institutes of Health (National Library of Medicine)  
    ... understanding Smith-Lemli-Opitz syndrome? acids ; autism ; autosomal ; autosomal recessive ; cell ; cholesterol ; deficiency ; digestive ; disability ; egg ; embryonic ; enzyme ; gastrointestinal ; gene ; ...
  3. Genetics Home Reference: Desmosterolosis From the National Institutes of Health (National Library of Medicine)  
    ... glossary definitions help with understanding desmosterolosis? arthrogryposis ; autosomal ; autosomal recessive ; cell ; cholesterol ; cleft palate ; corpus callosum ; developmental delay ; egg ; embryonic ; ...
  4. Genetics Home Reference: Complete LCAT deficiency From the National Institutes of Health (National Library of Medicine)  
    ... understanding complete LCAT deficiency? anemia ; artery ; atherosclerosis ; autosomal ; autosomal recessive ; cell ; cholesterol ; deficiency ; enzyme ; familial ; gene ; HDL ; hemolysis ; hemolytic anemia ; ...
  5. 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 ; inherited ; LDL ; lipoprotein ; recessive ; ...
  6. ... help with understanding chylomicron retention disease? apolipoprotein ; autosomal ; autosomal recessive ; cell ; cholesterol ; chylomicrons ; failure to thrive ; gene ; HDL ; inherited ; intestine ; ...
  7. Genetics Home Reference: MEGDEL syndrome From the National Institutes of Health (National Library of Medicine)  
    ... help with understanding MEGDEL syndrome? acidosis ; aciduria ; autosomal ; autosomal recessive ; cell ; cholesterol ; disability ; dystonia ; encephalopathy ; failure to thrive ; gene ; hypoglycemia ; ...
  8. Genetics Home Reference: Tangier disease From the National Institutes of Health (National Library of Medicine)  
    ... help with understanding Tangier disease? arteries ; atherosclerosis ; autosomal ; autosomal recessive ; cardiovascular ; cell ; cholesterol ; deficiency ; diabetes ; enlarged spleen ; familial ; gene ; HDL ; hereditary ; ...
  9. 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 ; breakdown ; cell ; cholesterol ; chronic ; CoA ; cobalamin ; coma ; deficiency ; dehydration ; developmental delay ; ...
  10. ... mevalonate kinase deficiency? acids ; aciduria ; amyloidosis ; ataxia ; autosomal ; autosomal recessive ; bile ; cell ; cholesterol ; cytoskeleton ; deficiency ; developmental delay ; differentiation ; disability ; enzyme ; epilepsy ; ...
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