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Clinical Features of the Classic Niemann-Pick Disease Type C Phenotype

Specialty:

Genetics

Objective:

ICD-10:

Description:

Niemann-Pick Type C is distinct from Types A and B both in clinical features and biochemical mechanism. There is accumulation of unesterified cholesterol and other lipids. There are many variant phenotypes with the classic phenotype described here seen in only about half of the patients.

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