Results 41 to 50 of about 353 (110)

Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico

Journal of Clinical Laboratory Analysis, Volume 38, Issue 13-14, July 2024.
This study examines the frequency of two specific LIPA variants, rs1051338 and rs116928232, in 310 healthy Mexican mestizo individuals and the effects of these on protein structure by bioinformatic analysis. The results confirm the effects of this variants on LAL function and are consistent with existing data, underscoring the significance of this ...
Angélica Alejandra Hernández‐Orozco, Lennon Melendez‐Aranda, Sandra del Carmen Mendoza‐Ruvalcaba, Francisco Javier Perea‐Díaz, Jorge J. Cebolla, Pilar Giraldo, Aniel Jessica Leticia Brambila‐Tapia, José Elías García‐Ortíz   +7 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency: Therapeutic Options

Drug Design, Development and Therapy, 2020
Gregory M Pastores,1 Derralynn A Hughes2 1Department of Medicine (Genetics)/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital and University College Dublin, Dublin, Ireland; 2Royal Free London NHS Foundation Trust,
Pastores GM, Hughes DA
doaj  

The Role of Sebelipase Alfa in Treating Lysosomal Acid Lipase Deficiency (LAL-D)

EMJ Hepatology, 2016
Lysosomal acid lipase deficiency (LAL-D), historically known as Wolman’s disease or cholesteryl ester storage disease, is a severe, underdiagnosed, and rare disease associated with significant morbidity and premature mortality. LAL is involved in lipid hydrolysis, and deficiency induces lipid metabolism abnormalities, which affect multiple organ ...
openaire   +1 more source

SEBELIPASE ALFA NEW THERAPY OF CHOICE FOR WOLMAN DISEASE

, 2019
Lysosomal enzyme activity deficiency(LAL-D) is a rare disorder of cholesterol metabolism of cellular steroid alcohol and for the physiology of lipoprotein diseases. When deficient in lysosomal acid lipase( LAL), the enzyme results in deposited with steroid alcohol and triglycerides in a specific number of tissues.
openaire   +2 more sources

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France. [PDF]

Adv Ther
Lacaille F, Marguet S, Rascon Velasco V, Hasanova R, Amri E, Chevrou-Severac H, Abel F, de Pouvourville G, Ratziu V, Feillet F.   +9 more
europepmc   +1 more source

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease. [PDF]

ACG Case Rep J
Lee A, Raasikh T, Bangaru S, Yano S, Chopra S, Saito T.   +5 more
europepmc   +1 more source

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion. [PDF]

Nutrients
White FJ, de Las Heras J, Rodríguez-Borjabad C, Jones SA, Kim AY, Moore J, Abel F, Frank L, Jones R, Vijay S.   +9 more
europepmc   +1 more source

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

Orphanet J Rare Dis
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A, Al Tenaiji A, Bzeizi KI, Miqdady M, Al Hashmi N, Alfadhel M.   +9 more
europepmc   +1 more source

Sudden-death of infant with lysosomal acid lipase deficiency successfully completing sebelipase alfa clinical trial

Molecular Genetics and Metabolism, 2018
Gargus, John Jay, Kimonis, Virginia, Uy, Cherry, Jalili, Merhdad, Nguyen, Rachel, Reiter-Akhavan, Samantha, Wencel, Marie, Edwards, Robert A   +7 more
openaire   +3 more sources