Results 141 to 150 of about 2,984,931 (176)

Lysosomal Acid Lipase Deficiency (LALD).

Congenital heart disease, 2016
openaire   +1 more source

Lipid-based nanoparticles deliver mRNA to reverse the pathogenesis of lysosomal acid lipase deficiency in a preclinical model

Zadory M, Lopez-Vince E, Haddouch H, Babity S, Rezaei N, Moawad F, El Rahbani RMK, Vujic N, Trinh VQ, Kratky D, Gravel S, Brambilla D.   +11 more
europepmc   +1 more source

The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency [PDF]

Therapeutic Advances in Gastroenterology, 2017
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype.
Angelika L. Erwin
exaly   +6 more sources

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Pediatric patients with lysosomal acid lipase deficiency

Revista Española de Patología, 2023
Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly,
David A, Suarez-Zamora, Maria M, Rojas-Rojas, Felipe, Ordoñez-Guerrero, Jacqueline, Mugnier-Quijano, Rocio, Lopez-Panqueva   +4 more
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Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction [PDF]

Atherosclerosis, 2014
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying ...
Marijana Coric, Emilio Ros, Stefano Bertolini   +2 more
exaly   +2 more sources

Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency [PDF]

Journal of Hepatology, 2014
Background & AimsLysosomal acid lipase deficiency is an autosomal recessive enzyme deficiency resulting in lysosomal accumulation of cholesteryl esters and triglycerides.
Manisha Balwani, Gregory M Enns, Claude B. Sirlin   +2 more
exaly   +2 more sources

Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease

Molecular Genetics and Metabolism, 2014
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TG) and cholesteryl esters (CE) in lysosomes. Mutations of the LIPA gene lead to Wolman disease (WD) and cholesterol ester storage disease (CESD). The disease hallmarks include hepatosplenomegaly and extensive storage of CE and/or TG.
Ying Sun, You-Hai Xu, Hong Du, Brian Quinn, Benjamin Liou, Lori Stanton, Venette Inskeep, Huimin Ran, Phillip Jakubowitz, Nicholas Grilliot, Gregory A. Grabowski   +10 more
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Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency

New England Journal of Medicine, 2017
An 18-year-old woman had elevated aminotransferase levels and a workup negative for infectious and autoimmune disease. Liver biopsy revealed birefringent cholesteryl ester crystals consistent with lysosomal acid lipase deficiency.
Vladimir, Ivashkin, Maria, Zharkova
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Lysosomal acid lipase deficiency: Expanding differential diagnosis

Molecular Genetics and Metabolism, 2017
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body ...
Vassili, Valayannopoulos, Eugen, Mengel, Anais, Brassier, Gregory, Grabowski   +3 more
openaire   +2 more sources