Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

doi:10.12998/wjcc.v8.i9.1642

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May 6, 2020 (publication date) through Dec 25, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. May 6, 2020; 8(9): 1642-1650
Published online May 6, 2020. doi: 10.12998/wjcc.v8.i9.1642

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Figure 1 Family pedigree with lysosomal acid lipase activity and single nucleotide polymorphisms. CESD: Cholesteryl ester storage disease; LAL: Lysosomal acid lipase.

Citation: Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL. Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature. World J Clin Cases 2020; 8(9): 1642-1650
URL: https://www.wjgnet.com/2307-8960/full/v8/i9/1642.htm
DOI: https://dx.doi.org/10.12998/wjcc.v8.i9.1642