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Prevalencia

DÉFICIT DE LIPASA ACIDA LISOSOMAL

Número de casos diagnosticados en España por Comunidades Autónomas:

 

 · Prevalencia LALD en España

 

 · Prevalencia LALD: Número de casos Estimados

1- Muntoni, et al. Prevalence of Cholesteryl Ester Storage Disease.  Arteriosclerosis, Thrombosis, and Vascular Biology. 2007;27.

2- Scott, et al.  Frequency of the CESD common LIPA E8SJM mutation in Various Racial and Ethnic Groups. Hepatology. 2013.  Prevalence shown for Caucasians and Hispanics.

3- Stitziel, et al.  Exome Sequencing and Directed Clinical Phenotyping Diagnose CESD Presenting as Autosomal Recessive Hypercholesterolemia. Arteriosclerosis, Thrombosis, and Vascular Biology.  2013.  Prevalence shown for people with European ancestry.

4- Grabowski GA CL, Du H. 2012. Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum. In: Scriver CR BA, Sly WS, Valle D, editor. Metabolic and Molecular Bases of Inherited Disease -- OMMBID. 8th ed. www.ommbid.com, New York: McGraw-Hill.