dc.contributor | Departament de Salut |
dc.contributor.author | Programa d'Harmonització Farmacoterapèutica |
dc.date.accessioned | 2019-09-05T06:06:50Z |
dc.date.available | 2019-09-05T06:06:50Z |
dc.date.issued | 2017-11-21 |
dc.identifier.citation | Programa d'harmonització farmacoterapèutica. Sebelipasa alfa per al tractament del dèficit de lipasa àcida lisosòmica. Barcelona: Servei Català de la Salut; 2017. |
dc.identifier.uri | https://hdl.handle.net/11351/4280 |
dc.description | Sebelipasa alpha; Lysosomal acid lipase; Cholesterol ester accumulation disease |
dc.description.abstract | The lysosomal acid lipase deficit (LAL) is a recessive autosomal hereditary disease
characterized by the accumulation of esters of cholesterol and triglycerides, particularly in the lysosomes of the liver, spleen, intestinal and blood vessels cells. This rare metabolic disease is caused by mutations in the lipase A gene (LIPA) that encodes the LAL enzyme, which plays a major role in metabolism and lipid degradation. More than 40 mutations have been identified that can lead to the loss or reduction of enzymatic activity leading to the accumulation of cholesterol and triglyceride esters |
dc.language.iso | cat |
dc.publisher | Servei Català de la Salut |
dc.relation.ispartof | Programa d'harmonització farmacoterapèutica, Servei Català de la Salut |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Metabolisme - Trastorns |
dc.subject | Lisosomes |
dc.subject | Medicaments - Assaigs clínics |
dc.subject | Medicaments - Assaigs clínics |
dc.subject.mesh | Wolman Disease |
dc.subject.mesh | /drug therapy |
dc.subject.mesh | Rare Diseases |
dc.subject.mesh | Drug Evaluation |
dc.title | Sebelipasa alfa per al tractament del dèficit de lipasa àcida lisosòmica |
dc.type | info:eu-repo/semantics/report |
dc.subject.decs | enfermedades raras |
dc.subject.decs | /tratamiento farmacológico |
dc.subject.decs | enfermedad de Wolman |
dc.subject.decs | evaluación de medicamentos |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |