Lysosomal Acid Lipase Deficiency: Therapeutic Options [PDF]
Drug Design, Development and Therapy, 2020 Gregory M Pastores,1 Derralynn A Hughes2 1Department of Medicine (Genetics)/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital and University College Dublin, Dublin, Ireland; 2Royal Free London NHS Foundation Trust,
Pastores GM, Hughes DA
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Lysosomal acid lipase A and the hypercholesterolaemic phenotype
Current Opinion in Lipidology, 2013 Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or the less severe cholesteryl ester storage disease (CESD).
Fouchier, Sigrid W., Defesche, Joep C.
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The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population [PDF]
Педиатрическая фармакология, 2018 Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the
Mikhail А. Fedyakov +9 more
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Progressive macrophage accumulation in lysosomal acid lipase deficiency
Molecular Genetics and Metabolism Reports, 2020 Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed.
Patryk Lipiński +5 more
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Annals of Hepatology, 2019 Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications.
Marlone Cunha-Silva +9 more
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Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children [PDF]
Медицинский совет, 2022 Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, autosomal recessive disease, which develops due to impaired degradation and subsequent intra-lysosomal accumulation of triglycerides and cholesterol esters causing dyslipidemia.
I. I. Pshenichnikova +4 more
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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum [PDF]
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
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Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]
РМЖ. Мать и дитя, 2022 N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya +6 more
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A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency [PDF]
The Turkish Journal of Pediatrics, 2020 Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA ...
Berrak Bilginer Gürbüz +3 more
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THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE [PDF]
Медицинский совет, 2018 Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy.
S. A. Loskutova +2 more
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