Associated Papers
Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.
Lee A et al.
Acg Case Reports Journal, 2025
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
Hernández-Orozco AA et al.
Journal of Clinical Laboratory Analysis, 2024
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Roychowdhury T et al.
Nature Genetics, 2023
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R et al.
International Journal of Molecular Sciences, 2022
Exome sequencing identifies rare mutations of LDLR and QTRT1 conferring risk for early-onset coronary artery disease in Chinese.
Yao K et al.
National Science Review, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 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
Lysosomal Acid Lipase Deficiency: Therapeutic Options.
Pastores GM et al.
Drug Design, Development and Therapy, 2020
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.
Evans TD et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 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
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
Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.
Zhang H
Current Opinion in Lipidology, 2018
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Buonuomo PS et al.
Atherosclerosis, 2017
Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.
Morris GE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2017
LIPA Variants in Genome-Wide Association Studies of Coronary Artery Diseases: Loss-of-Function or Gain-of-Function?
Zhang H et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2017
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
Association of non-synonymous variants in WIPF3 and LIPA genes with abdominal aortic aneurysm: an autopsy study.
Maeda Y et al.
Journal of Geriatric Cardiology : Jgc, 2016
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Sjouke B et al.
Atherosclerosis, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
Muntoni S et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
Guénard F et al.
Obesity (silver Spring, Md.), 2012
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Chora JR et al.
Journal of Clinical Lipidology, 0
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
Consuelo-Sánchez A et al.
Annals of Hepatology, 0