Lysosomal acid lipase deficiency in all siblings of the same parents

Author:

Maciejko James J.,Anne PremchandORCID,Raza Saleem,Lyons Hernando J.

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference35 articles.

1. Lysosomal acid lipase deficiency: the Wolman disease/cholesteryl ester storage disease spectrum;Grabowski,2013

2. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease;Bernstein;J Hepatol,2013

3. Enzyme deficiency in cholesteryl ester storage disease;Sloan;J Clin Invest,1972

4. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity;Aslanidis;Genomics,1996

5. Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease;Ameis;Z Gastroenterol,1996

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