deficiency

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Related to Acid lipase deficiency: Lipoprotein lipase deficiency

deficiency

Biology the absence of a gene or a region of a chromosome normally present
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References in periodicals archive ?
Acid lipase deficiency: Wolman disease and cholesterol ester storage disease.
The company also has two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare metabolic disorders, hypophosphatasia and lysosomal acid lipase deficiency (LAL-D).
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder characterized by the accumulation of triglycerides and cholesteryl esters in the lysosome.