Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study

Lysosomal acid lipase deficiency (LAL‐D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in LIPAse A, lysosomal acid type (LIPA) gene. The rs1051338 single‐nucleotide polymorphism (SNP) in LIPA gene, in vitro, cou...

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Detalles Bibliográficos
Autores principales: 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, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8413903/
https://www.ncbi.nlm.nih.gov/pubmed/34476902
http://dx.doi.org/10.1002/prp2.820

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8413903/
https://www.ncbi.nlm.nih.gov/pubmed/34476902
http://dx.doi.org/10.1002/prp2.820

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