Research map: Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry

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  1. Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease · Donna L. Bernstein · 2013 · 381 citations · Cited by this paper
  2. Persistent gaps in management and risk factor control among patients with atherosclerotic cardiovascular disease: All of us research program · 2026 · Related
  3. Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction · Željko Reiner · 2014 · 314 citations · Cited by this paper
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  9. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency · Barbara K. Burton · 2015 · 248 citations · Cited by this paper
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  11. Changes in Fasting Lipids during Puberty · Mona Ali Eissa · 2015 · 122 citations · Cited by this paper
  12. Dietary vitamin K intakes and atherosclerotic cardiovascular disease incidence: Findings from the UK biobank · 2026 · Related
  13. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants · Simon Allan Jones · 2015 · 121 citations · Cited by this paper
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  15. A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance · Isabel C. Hageman · 2023 · 94 citations · Cited by this paper
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  17. Lysosomal acid lipase A and the hypercholesterolaemic phenotype · Sigrid W. Fouchier · 2013 · 79 citations · Cited by this paper
  18. Elevated remnant cholesterol, but not LDL cholesterol, explains part of recurrent ASCVD events in individuals with and without impaired renal function: the Copenhagen General Population Study and the UK Biobank · 2026 · Related
  19. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD · Anna Carter · 2018 · 77 citations · Cited by this paper
  20. Methodological and clinical considerations in a Japanese cohort study of familial hypercholesterolemia and stroke—authors’ reply · 2026 · Related
  21. Pediatric lipid reference values in the general population: The Dutch lifelines cohort study · Jan Willem Balder · 2018 · 75 citations · Cited by this paper
  22. 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 · Suresh Vijay · 2021 · 35 citations · Cited by this paper
  23. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study · Barbara K. Burton · 2021 · 34 citations · Cited by this paper
  24. Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency · Barbara K. Burton · 2022 · 22 citations · Cited by this paper
  25. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry · Manisha Balwani · 2023 · 19 citations · Cited by this paper
  26. Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease · Javier de las Heras · 2024 · 14 citations · Cited by this paper
  27. Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry · Lorenzo D’Antiga · 2025 · 3 citations · Cited by this paper
  28. Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion · F. White · 2026 · 1 citation · Cited by this paper

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