Buscar
Mostrando ítems 1-10 de 26
Cholesteryl ester storage disease. Report of a case.
(1987-07-01)
Cholesteryl ester storage disease (CESD) is a rare disorder of familial incidence characterized by the accumulation of cholesteryl ester and triglycerides in the liver, intestine and bone marrow. Until now only 21 cases ...
Cholesteryl ester storage disease. Report of a case.
(1987-07-01)
Cholesteryl ester storage disease (CESD) is a rare disorder of familial incidence characterized by the accumulation of cholesteryl ester and triglycerides in the liver, intestine and bone marrow. Until now only 21 cases ...
Detection of the E8SJM mutation in the LIPA gene, by real-time PCR, for the investigation of cholesteryl ester storage diseaseDetección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol
(Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana, 2018)
Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation
(American Society for Biochemistry and Molecular Biology, 2020-07)
Niemann–Pick type C (NPC) disease is a lysosomal storage disorder arising from mutations in the cholesterol-trafficking protein NPC1 (95%) or NPC2 (5%). These mutations result in accumulation of low-density lipoprotein-derived ...
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
(2017)
Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While ...
Padronização da análise molecular do gene LIPA e investigação de variantes em família brasileira com suspeita diagnóstica de deficiência de lipase ácida lisossomal
(Universidade Federal de São Paulo (UNIFESP), 2019-10-30)
Wolman's disease and cholesterol and triglyceride ester storage (CESD) are caused by deficiency or lack of lipase enzyme activity lysosomal acid (LAL); these diseases have as common characteristic the accumulation of ...
Deficiência da Lipase Ácida Lisossômica (LAL-D): uma causa subdiagnosticada de dislipidemia e alterações da função hepática
(Universidade Federal de São Paulo (UNIFESP), 2020-06-25)
Lysosomal acid lipase (LAL) is the enzyme encoded by the LIPA gene; deficiency of this enzyme leads to a congenital lysosomal disorder called Lysosomal Acid Lipase Deficiency (LAL-D). LAL is essential for lipid metabolism ...