Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R et al.
International Journal of Molecular Sciences, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
Vijay S et al.
Orphanet Journal of Rare Diseases, 2021
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.
Gürbüz BB et al.
The Turkish Journal of Pediatrics, 2020
Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.
Evans TD et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.
Tikhonova EB et al.
Journal of Molecular Biology, 2019
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
Lysosomal Acid Lipase in Lipid Metabolism and Beyond.
Li F et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.
Ashfield-Watt P et al.
Annals of Clinical Biochemistry, 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.
Ruiz-Andrés C et al.
Jimd Reports, 2017
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Sjouke B et al.
Atherosclerosis, 2016
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
Muntoni S et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2013
Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
Guénard F et al.
Obesity (silver Spring, Md.), 2012
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Chora JR et al.
Journal of Clinical Lipidology, 0