ReviewDrug design, development and therapy2020
Lysosomal Acid Lipase Deficiency: Therapeutic Options.
Review in Drug design, development and therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 50 citations in OpenAlex.
- Hepatobiliary organoid research: the progress and applications.Frontiers in pharmacology · 2025Review
- Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature.Cureus · 2024Article
- Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.Orphanet journal of rare diseases · 2024Article
- Expanded genetic testing in familial hypercholesterolemia-A single center's experience.American journal of preventive cardiology · 2024Article
- Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.Journal of medical case reports · 2023Review
- First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.Journal of molecular neuroscience : MN · 2023Article
- Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.International journal of molecular sciences · 2022Review
- Intracellular-to-extracellular localization switch of acidic lipase in Enterobacter cloacae through multi-objective medium optimization: aqueous two-phase purification and activity kinetics.World journal of microbiology & biotechnology · 2022Article
- Therapeutic efficacy of rscAAVrh74.miniCMV.Molecular therapy. Methods & clinical development · 2022Article
- Article
- A Novel Variant in theBalkan journal of medical genetics : BJMG · 2022Article
- Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency.Journal of pediatric gastroenterology and nutrition · 2022Article
- Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.Molecular genetics and metabolism reports · 2022Article
- Enzyme Therapy: Current Challenges and Future Perspectives.International journal of molecular sciences · 2021Review
- Pediatric metabolic liver diseases: Evolving role of liver transplantation.World journal of transplantation · 2021Review
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal acid lipase (LAL) deficiency is a metabolic (storage) disorder, encompassing a severe (Wolman disease) and attenuated (Cholesterol ester storage disease) subtype; both inherited as autosomal recessive traits. Cardinal clinical features include the combination of hepatic dysfunction and dyslipidemia, as a consequence of cholesteryl esters and triglyceride accumulation, predominately in the liver and vascular and reticuloendothelial system. Significant morbidity can arise, due to liver failure and/or atherosclerosis; in part related to the severity of the underlying gene defect and corresponding enzyme deficiency. Diagnosis is based on demonstration of decreased LAL enzyme activity, complemented by analysis of the cognate gene defects. Therapeutic options include dietary manipulation and the use of lipid-lowering drugs. Sebelipase alfa, a recombinant enzyme replacement therapy, has garnered regulatory approval, following demonstration of improvements in disease-relevant markers and clinical benefit in clinical trials, which included increased survival in the most severe cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.