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
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
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
Lysosomal acid lipase deficiency in Brazilian children: a case series.
Benevides GN et al.
Jornal De Pediatria, 0