Chediak-Higashi Syndrome is an autosomal recessive disorder that affects many parts of the body, and arises from a mutation in the lysosomal transport regulator gene. 🔊 Listen to this Fewer than 200 people worldwide have been identified with this genetic...
Zellweger syndrome is a rare congenital disease characterized by the reduction or absence of peroxisomes in liver, kidney and brain cells. Cells do not have the capacity to carry out, in peroxisomes, the beta-oxidation of long-chain fatty acids. As the peroxisome does...
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