Wolman disease

'Wolman disease' can also refer to...


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A lysosomal storage disease frist described by M. Wolman and three colleagues in 1961. The condition is inherited as an autosomal recessive, and it is due to a deficiency of an acid lipase which leads to progressive accumulation of triglycerides and cholesterol esters in lysosomes of homozygotes. The mutations responsible are in a gene symbolized LIPA (for lipase A), and it is located between bands 24 and 25 on the long arm of chromosome 10.

Subjects: Genetics and Genomics — Chemistry.

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