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Lysosomal Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease

Agnieszka Ługowska1, PhD, and Anna Tylki-Szymańska2, MD, PhD

The first description of an infant with massive hepatosplenomegaly and adrenal gland calcification was published in 1956 by Abramov, Schorr, and Wolman. They noted that the enlargement of both the liver and the spleen was associated with the accumulation of cholesteryl esters and triglycerides in these organs. In the following years, Wolman published the clinical course of two other affected infants from the same family.

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Pathology and Pathophysiology
CML Lysosomal Storage Diseases
Screening and Diagnosis
CML Lysosomal Storage Diseases