Associated Papers
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
Balwani M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
Lipiński P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2018
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Sjouke B et al.
Atherosclerosis, 2016
Select a paper to view details