Results 31 to 40 of about 2,984,931 (176)

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review [PDF]

Therapeutic Advances in Rare Disease, 2021
Pramil Tiwari, Ajay Duseja, Aamir Bashir
exaly   +2 more sources

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease [PDF]

Nutrients
Javier de las Heras, Raquel Yahyaoui, Mafalda Bourbon   +2 more
exaly   +2 more sources

A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. [PDF]

J Pediatr Gastroenterol Nutr, 2020
Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes.
Shen JJ, Davis JL, Hong X, Laningham FH, Gelb MH, Kim GE.   +5 more
europepmc   +2 more sources

Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
doaj   +1 more source

Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging

Frontiers in Aging, 2022
The human LIPA gene encodes for the enzyme lysosomal acid lipase, which hydrolyzes cholesteryl ester and triacylglycerol. Lysosomal acid lipase deficiency results in Wolman disease and cholesteryl ester storage disease.
Lea Hänschke, Christoph Heier, Christoph Heier, Christoph Heier, Santiago José Maya Palacios, Huseyin Erdem Özek, Christoph Thiele, Reinhard Bauer, Ronald P. Kühnlein, Ronald P. Kühnlein, Ronald P. Kühnlein, Margret H. Bülow   +11 more
doaj   +1 more source

Hepatosteatosis from Lysosomal Acid Lipase Deficiency. [PDF]

J Gastrointest Surg, 2019
Zandanell S, Primavesi F, Aigner E.
europepmc   +4 more sources

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   +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

Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic. [PDF]

Arq Bras Cardiol
Abstract Background Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disease, with massive accumulation of cholesteryl esters and triglycerides in many organs, leading to hepatosplenomegaly, microvesicular steatosis, cirrhosis and premature death. Early recognition is crucial for timely enzyme replacement therapy.
Brasil Z, Fonseca FAH, Curiati MA, Kyosen SO, Pereira VG, Fonzar WT, Pesquero JB, Patrício FRDS, Yamamoto MH, Yamamoto JU, D'Almeida V, Martins AM, Izar MC.   +12 more
europepmc   +4 more sources

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights [PDF]

Journal of Inherited Metabolic Disease, 2019
Sarah H. Elsea, Taraka R Donti, Qin Sun
exaly   +2 more sources