Results 31 to 40 of about 2,600,769 (206)

Genetic Variation of Lysosomal Acid Lipase [PDF]

Pediatric Research, 1976
Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD).
J A, Cortner, P M, Coates, E, Swoboda, J D, Schnatz   +3 more
openaire   +2 more sources

Lysosomal acid lipase deficiency in Brazilian children: a case series

Jornal de Pediatria (Versão em Português), 2019
Objective: To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency. Methods: A retrospective review of the medical records of children with the disease.
Gabriel Nuncio Benevides, Irene Kazue Miura, Natalia Canale Person, Renata Pereira Sustovich Pugliese, Vera Lúcia Baggio Danesi, Fabiana Roberto Lima, Gilda Porta   +6 more
doaj   +3 more sources

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2018
Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini   +4 more
doaj   +1 more source

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency [PDF]

, 2015
Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase ...
Peters, Heidi, Consuelo-Sanchez, A., Neilan, Edward G, Goodman, Zachary, Kane, John, Schwab, K.O., Valayannopoulos, V., Mengel, E., Burrow, T. Andrew, Enns, G.M., Burrow, T.A., Laukaitis, Christina, Burton, Barbara K, Furuya, Katryn N., Barić, Ivo, Grande, C.C., Coker, Mahmut, Wood, M., Rojas-Caro, S., Peters, H., Nightingale, Scott, Burton, Barbara, Di Rocco, Maja, Furuya, Katryn N, Furuya, K.N., Neilan, Edward G., Di Rocco, M., Ezgu, F., Yang, Y., Schwab, K Otfried, Feillet, F., Eckert, Stephen, Rojas-Caro, Sandra, Ficicioglu, Can, Laukaitis, C., Coker, M., Neilan, E.G., Eckert, S., Nightingale, S., Ficicioglu, C., Smolka, V., Enns, Gregory M., Camarena Grande, Carmen, Wood, Marnie, Yang, Yijun, Balwani, M., Quinn, Anthony G, Kane, J., Ezgu, Fatih, Mengel, Eugen, SCARPA, MAURIZIO, Quinn, A.G., Feillet, François, Schwab, K. Otfried, Deegan, Patrick, Consuelo Sánchez, Alejandra, Deegan, P., Smolka, Vratislav, Enns, Gregory M, Quinn, Anthony G., Balwani, Manisha, Scarpa, M., Goodman, Z., Erbe, R., Baric, I., Rojas Caro, Sandra, Burton, B.K., Erbe, Richard, Valayannopoulos, Vassili, Burrow, T Andrew, Consuelo-Sánchez, Alejandra   +70 more
core   +1 more source

Lysosomal Acid Lipase in Lipid Metabolism and Beyond [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
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 human with LAL deficiency.
Fang, Li, Hanrui, Zhang
openaire   +2 more sources

Lysosomal Acid Lipase Deficiency in pediatric patients: a scoping review

, 2020
The development of an enzyme replacement therapy with sebelipase alfa became the correct diagnosis of lisosomal acid lipase deficiency crucial for effective therapy and long-term survival.
Júlia Meller Dias de Oliveira, Graziela De Luca Canto, Camila Witeck, Andre Luis Porporatti, Anne Calbusch Schmitz, Maria Marlene de Souza Pires   +5 more
core   +1 more source

Recognition and receptor-mediated endocytosis of the lysosomal acid lipase secreted by cultured human fibroblasts.

Journal of Lipid Research, 1982
We have studied the recognition and uptake of acid lipase by human fibroblasts in order to determine requirements for localization and function of the enzyme in lysosomes.
G N Sando, V L Henke
doaj   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

Molecular Genetics and Metabolism Reports, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in ...
Dominik Soll, Dominik Spira, Tim Hollstein, Linus Haberbosch, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Joachim Spranger, Ursula Kassner   +8 more
doaj   +1 more source

Clinical Features of Lysosomal Acid Lipase Deficiency [PDF]

Journal of Pediatric Gastroenterology and Nutrition, 2015
AbstractObjective:The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults.Methods:Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a ...
Burton, Barbara K, Deegan, Patrick B, Enns, Gregory M, GUARDAMAGNA, Ornella, Horslen, Simon, Hovingh, Gerard K, Lobritto, Steve J, Malinova, Vera, Mclin, Valerie A, Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut Cegielska, Jolanta, Whitley, Chester B, Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.   +17 more
openaire   +6 more sources

Specific Substrate for the Assay of Lysosomal Acid Lipase [PDF]

Clinical Chemistry, 2018
Abstract BACKGROUND Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried ...
Sophia, Masi, Naveen, Chennamaneni, Frantisek, Turecek, C Ronald, Scott, Michael H, Gelb   +4 more
openaire   +2 more sources