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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Lysosomal Acid Lipase Deficiency[original query]
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Journal of hepatology 2018 10 70 (1): 142-150.
Carter Anna, Brackley Simon Mark, Gao Jiali, Mann Jake Pet
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
Annals of hepatology 2019 6 18 (4): 646-650.
Consuelo-Sánchez Alejandra, Vázquez-Frias Rodrigo, Reyes-De La Rosa Alejandra, Acosta-Rodríguez-Bueno Carlos P, Ortal-Vite María P, Cebolla Jorge
Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study.
Atherosclerosis 2019 4 285 49-54.
Cebolla Jorge J, Irún Pilar, Mozas Pilar, Giraldo Pil
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.
Pharmacology research & perspectives 2021 9 9 (5): e00820.
Pasta Andrea, Borro Paolo, Cremonini Anna Laura, Formisano Elena, Tozzi Giulia, Cecchi Stefano, Fresa Raffaele, Labanca Sara, Djahandideh Afscin, Sukkar Samir Giuseppe, Picciotto Antonino, Pisciotta Liv
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