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

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

Abstract 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 v...

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Detalles Bibliográficos
Autores principales: Andrea Pasta, Paolo Borro, Anna Laura Cremonini, Elena Formisano, Giulia Tozzi, Stefano Cecchi, Raffaele Fresa, Sara Labanca, Afscin Djahandideh, Samir Giuseppe Sukkar, Antonino Picciotto, Livia Pisciotta
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
controlled attenuation parameter
hepatic steatosis
LIPA gene
NAFLD
rs1051338
Therapeutics. Pharmacology
RM1-950
Acceso en línea:https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a
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https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a

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