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
Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.
Fornengo P et al.
World Journal of Cardiology, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experience.
Buganza R et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders.
Lancho Muñoz A et al.
Revista Espanola De Enfermedades Digestivas, 2025
Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.
Atava I et al.
International Journal of Molecular Sciences, 2024
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
de Las Heras J et al.
Nutrients, 2024
Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature.
Nedelcu C et al.
Cureus, 2024
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R et al.
Genome Medicine, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
Hernández-Orozco AA et al.
Journal of Clinical Laboratory Analysis, 2024
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH et al.
Digestive Diseases and Sciences, 2024
Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia.
Sheth S et al.
Jacc. Case Reports, 2023
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
Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.
Asna Ashari K et al.
Journal of Medical Case Reports, 2023
Recent insights into lysosomal acid lipase deficiency.
Korbelius M et al.
Trends in Molecular Medicine, 2023
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R et al.
International Journal of Molecular Sciences, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.
Sarajlija A et al.
Balkan Journal of Medical Genetics : Bjmg, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.
Sustar U et al.
Frontiers in Genetics, 2022
Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.
Besler KJ et al.
Frontiers in Genetics, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.
Saad M et al.
Acg Case Reports Journal, 2021
Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease.
Rajamohan F et al.
Journal of Lipid Research, 2020
Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature.
Rashu EB et al.
World Journal of Clinical Cases, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Clinical and Histologic Liver Improvement in Siblings With Lysosomal Acid Lipase Deficiency After Enzyme Replacement.
Lyons H et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
A Rare Image of Liver Steatosis - Acid Lipase Lysosomal Deficiency.
Calian I et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2020
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
Mariano C et al.
Clinical Genetics, 2020
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.
Pritchard AB et al.
Orphanet Journal of Rare Diseases, 2020
Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group.
Kohli R et al.
Molecular Genetics and Metabolism, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.
Gürbüz BB et al.
The Turkish Journal of Pediatrics, 2020