Enzyme Deficiency
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Genes Diseases
Pompe Disease: A metabolic disorder affecting the muscles.
What is the Pompe Disease ? Pompe disease is a rare genetic disorder that affects the lysosomal enzyme acid alpha-glucosidase…
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Genes Diseases
Niemann-Pick Disease: A metabolic disorder affecting the liver, spleen, and brain.
What is the Niemann-Pick Disease ? Niemann-Pick disease is a rare genetic disorder that affects the metabolism of sphingomyelin, a…
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Genes Diseases
Gaucher Disease: A metabolic disorder affecting the spleen, liver, and bone marrow.
What is the Gaucher Disease ? Gaucher disease is a rare genetic disorder that affects the spleen, liver, and bone…
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