[Lysosomal acid lipase deficiency. Overview of Czech patients].

  title={[Lysosomal acid lipase deficiency. Overview of Czech patients].},
  author={Milan Elleder and Helena Poupětov{\'a} and Jana Ledvinov{\'a} and J. Hy{\'a}nek and Jiř{\'i} Zeman and Josef S{\'y}kora and Frantisek Stozĭck{\'y} and Alena Chlumsk{\'a} and Peter William Lohse},
  journal={Casopis lekaru ceskych},
  volume={138 23},
Lysosomal lipase deficiency is a hereditary autosomal recessive enzymopathy leading to lysosomal storage of triacylglycerols (TAG) and cholesterol esters (CE). In particular cells with a permanently high receptor-mediated LDL endocytosis are affected (liver, kidneys). There are two basic phenotypes. The fatal infantile phenotype (Wolman's disease) with generalized storage of both types of apolar lipids. This form was diagnosed in this country only once. The opposite is the protracted… CONTINUE READING


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