Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Author:

Bernstein Donna L.,Hülkova Helena,Bialer Martin G.,Desnick Robert J.

Publisher

Elsevier BV

Subject

Hepatology

Reference132 articles.

1. Deficiency of acid esterase activity in Wolman’s disease;Young;Arch Dis Child,1970

2. The metabolic and molecular bases of inherited disease;Assmann,2001

3. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum;Grabowski,2012

4. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens;Hulkova;Histopathology,2012

5. Enzyme deficiency in cholesteryl ester storage idisease;Sloan;J Clin Invest,1972

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