Associated Papers
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.
AlSayed M et al.
Orphanet Journal of Rare Diseases, 2025
Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.
Lee A et al.
Acg Case Reports Journal, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.
Bastos KLM et al.
International Journal of Molecular Sciences, 2024
Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.
Jackson J et al.
Genetic Testing and Molecular Biomarkers, 2023
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Elaraby NM et al.
Journal of Molecular Neuroscience : Mn, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder.
Vasudevan K et al.
Advances in Protein Chemistry and Structural Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Natural history and management of liver dysfunction in lysosomal storage disorders.
Sen Sarma M et al.
World Journal of Hepatology, 2022
Novel association of metastatic Crohn's disease and Wolman disease.
AlAsmari A et al.
Jaad Case Reports, 2022
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Demaret T et al.
Orphanet Journal of Rare Diseases, 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.
Alabbas F et al.
Bmc Pediatrics, 2021
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 Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.
Shen JJ et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
Vinje T et al.
Human Molecular Genetics, 2019
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Carter A et al.
Journal of Hepatology, 2019
Prenatal sonographic findings in a case of Wolman's disease.
Blitz MJ et al.
Journal of Clinical Ultrasound : Jcu, 2018
Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease.
Küçükçongar Yavaş A et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2017
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Aguisanda F et al.
Current Chemical Genomics and Translational Medicine, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Reiner Ž et al.
Atherosclerosis, 2014
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.
Reynolds T
Journal of Clinical Pathology, 2013
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
Valles-Ayoub Y et al.
Genetic Testing and Molecular Biomarkers, 2011
[Liver tumors associated with hereditary metabolic diseases].
Kurosaki A et al.
Rinsho Hoshasen. Clinical Radiography, 1984
Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish population.
Bernstein DL et al.
Molecular Genetics and Metabolism, 0