Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

Author:

Consuelo-Sánchez Alejandra,Vázquez-Frias Rodrigo,Reyes-De La Rosa Alejandra,Acosta-Rodríguez-Bueno Carlos P.,Ortal-Vite María P.,Cebolla Jorge J.

Publisher

Elsevier BV

Subject

Hepatology,General Medicine

Reference20 articles.

1. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases;Porto;Pediatr Endocrinol Rev,2014

2. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease;Pagani;Hum Mol Genet,1996

3. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity;Aslanidis;Genomics,1996

4. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase: similarities to gastric and lingual lipases;Anderson;J Biol Chem,1991

5. The human gene mutation database: 2008 update;Stenson;Genome Med,2009

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