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Clinical Features of Cholesterol Ester Storage Disease (CESD, Non-Infantile Lysosomal Acid Lipase Deficiency, LALD)

Specialty:

Genetics

Objective:

ICD-10:

Description:

Lysosomal acid lipase deficiency may present either during infancy or later. Cholesterol ester storage disease (CESD) may involve a spectrum of findings depending on the severity of the lipase deficiency.

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