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

• Main Authors: Andrea Pasta (Author), Paolo Borro (Author), Anna Laura Cremonini (Author), Elena Formisano (Author), Giulia Tozzi (Author), Stefano Cecchi (Author), Raffaele Fresa (Author), Sara Labanca (Author), Afscin Djahandideh (Author), Samir Giuseppe Sukkar (Author), Antonino Picciotto (Author), Livia Pisciotta (Author)
• Format: Book
• Published: Wiley, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...