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Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.
Tylki-Szymańska A, Jurecka A. Tylki-Szymańska A, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):99-106. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014. PMID: 24798600 Review.
Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysosomal storage disorders caused by a deficient activity of lysosomal acid lipase (cholesteryl ester hydrolase, LAL). Human lysosomal acid lipas …
Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysoso …
Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.
Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Pericleous M, et al. Lancet Gastroenterol Hepatol. 2017 Sep;2(9):670-679. doi: 10.1016/S2468-1253(17)30052-3. Lancet Gastroenterol Hepatol. 2017. PMID: 28786388 Review.
Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic failure, and an average life expectancy of less than 4 months. ...There are no formal guidelines for treatment of these patients, and treatm …
Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic …
Lysosomal Acid Lipase Deficiency: Therapeutic Options.
Pastores GM, Hughes DA. Pastores GM, et al. Drug Des Devel Ther. 2020 Feb 11;14:591-601. doi: 10.2147/DDDT.S149264. eCollection 2020. Drug Des Devel Ther. 2020. PMID: 32103901 Free PMC article. Review.
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. ...Sebelipase alfa, a recombinant enzyme …
Lysosomal acid lipase (LAL) deficiency is a metabolic (storage) disorder, encompassing a severe (Wolman disease) and attenuate …
Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.
Alabbas F, Elyamany G, Alanzi T, Ali TB, Albatniji F, Alfaraidi H. Alabbas F, et al. BMC Pediatr. 2021 Feb 10;21(1):72. doi: 10.1186/s12887-021-02541-2. BMC Pediatr. 2021. PMID: 33568092 Free PMC article. Review.
Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman's disease (WD) is a rare and …
Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe inf …
Lysosomal Acid Lipase in Lipid Metabolism and Beyond.
Li F, Zhang H. Li F, et al. Arterioscler Thromb Vasc Biol. 2019 May;39(5):850-856. doi: 10.1161/ATVBAHA.119.312136. Arterioscler Thromb Vasc Biol. 2019. PMID: 30866656 Free PMC article. Review.
In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease and cholesteryl ester storage disease, in which LAL enzyme-replacement therapy has shown significant benefits in a phase 3 clinical trial. ...Future studies will cont …
In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease and cholesteryl ester storage …
Genetically modified mouse models to study hepatic neutral lipid mobilization.
Haemmerle G, Lass A. Haemmerle G, et al. Biochim Biophys Acta Mol Basis Dis. 2019 May 1;1865(5):879-894. doi: 10.1016/j.bbadis.2018.06.001. Epub 2018 Jun 5. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 29883718 Free PMC article. Review.
Excessive cholesteryl ester accumulation is a hallmark of cholesteryl ester storage disease or Wolman disease, which is associated with premature death. ...This article is part of a Special Issue entitled Molecular Basis of Disease: Animal models in li …
Excessive cholesteryl ester accumulation is a hallmark of cholesteryl ester storage disease or Wolman disease, which is …
Mexican consensus on lysosomal acid lipase deficiency diagnosis.
Vázquez-Frias R, García-Ortiz JE, Valencia-Mayoral PF, Castro-Narro GE, Medina-Bravo PG, Santillán-Hernández Y, Flores-Calderón J, Mehta R, Arellano-Valdés CA, Carbajal-Rodríguez L, Navarrete-Martínez JI, Urbán-Reyes ML, Valadez-Reyes MT, Zárate-Mondragón F, Consuelo-Sánchez A. Vázquez-Frias R, et al. Rev Gastroenterol Mex (Engl Ed). 2018 Jan-Mar;83(1):51-61. doi: 10.1016/j.rgmx.2017.08.001. Epub 2017 Dec 27. Rev Gastroenterol Mex (Engl Ed). 2018. PMID: 29287906 Free article. English, Spanish.
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed …
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes o …
Lysosomal acid lipase deficiency in pediatric patients: a scoping review.
Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS. Witeck CDR, et al. J Pediatr (Rio J). 2022 Jan-Feb;98(1):4-14. doi: 10.1016/j.jped.2021.03.003. Epub 2021 May 6. J Pediatr (Rio J). 2022. PMID: 33964214 Free PMC article. Review.
OBJECTIVE: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. ...SUMMARY OF THE FINDINGS: The initial search returned 1593 studies, and the final selection included 108 studies …
OBJECTIVE: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first yea …
Disorders in the initial steps of steroid hormone synthesis.
Miller WL. Miller WL. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):18-37. doi: 10.1016/j.jsbmb.2016.03.009. Epub 2016 Mar 6. J Steroid Biochem Mol Biol. 2017. PMID: 26960203 Review.
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. Disorders in these steps include Adrenoleukodystrophy, Wolman Disease and its milder variant Cholesterol Ester Storage …
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholest …
Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.
Asna Ashari K, Azari-Yam A, Shahrooei M, Ziaee V. Asna Ashari K, et al. J Med Case Rep. 2023 Aug 29;17(1):369. doi: 10.1186/s13256-023-04116-4. J Med Case Rep. 2023. PMID: 37641143 Free PMC article. Review.
BACKGROUND: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. ...The genetic analysis revealed after his demise was compatible with Wolman disease, introducing a novel mutat …
BACKGROUND: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations …
75 results