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Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R, Takada S. Mashima R, et al. Int J Mol Sci. 2022 Dec 8;23(24):15549. doi: 10.3390/ijms232415549. Int J Mol Sci. 2022. PMID: 36555187 Free PMC article. Review.
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one …
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through th …
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. ...The dataset included observational studies with clinical and laboratory characteris …
OBJECTIVE: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with …
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. ...Sebelipas …
Lysosomal acid lipase (LAL) deficiency is a metabolic (storage) disorder, encompassing a severe (Wolman …
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) …
Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lys …
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
Camarena C, Aldamiz-Echevarria LJ, Polo B, Barba Romero MA, García I, Cebolla JJ, Ros E. Camarena C, et al. Med Clin (Barc). 2017 May 10;148(9):429.e1-429.e10. doi: 10.1016/j.medcli.2016.12.044. Epub 2017 Mar 9. Med Clin (Barc). 2017. PMID: 28285817 English, Spanish.
Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. ...In all other cases, the phenoty …
Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the l …
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E. Reiner Ž, et al. Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15. Atherosclerosis. 2014. PMID: 24792990 Free article. Review.
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. ...This article provides practical guidance to lipidologists, endocrinologists, cardiologis …
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease c …
Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.
Porto AF. Porto AF. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:125-32. Pediatr Endocrinol Rev. 2014. PMID: 25345094 Review.
Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by the LIPA gene on chromosome 10q23.31. Its deficiency leads to two autosomal recessive disorders, Wolman disease (WD) an …
Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by …
Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.
Frampton JE. Frampton JE. Am J Cardiovasc Drugs. 2016 Dec;16(6):461-468. doi: 10.1007/s40256-016-0203-2. Am J Cardiovasc Drugs. 2016. PMID: 27878737 Review.
Sebelipase alfa (Kanuma(), Kanuma), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patient …
Sebelipase alfa (Kanuma(), Kanuma), the first commercially available recombinant human lysosomal acid lipase (LAL), is …
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.
Lysosomal acid lipase (LAL), encoded by the lipase A ( LIPA) gene, hydrolyzes cholesteryl esters and triglycerides to generate free fatty acids and cholesterol in the cell. The essential role of LAL in lipid metabolism has been confirmed in mice and hu …
Lysosomal acid lipase (LAL), encoded by the lipase A ( LIPA) gene, hydrolyzes cholesteryl esters and triglycerid …
Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis?
Guardamagna O, Guaraldi F. Guardamagna O, et al. Curr Pediatr Rev. 2017;13(4):232-242. doi: 10.2174/1573396314666180111144514. Curr Pediatr Rev. 2017. PMID: 29332587 Review.
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type …
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulat …
87 results