Results 31 to 40 of about 2,438 (157)

Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (CESD),
Patricia Lam, Anna Ashbrook, Deborah A. Zygmunt, Cong Yan, Hong Du, Paul T. Martin   +5 more
doaj   +1 more source

Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Jornal de Pediatria, 2022
Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival.
Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires   +5 more
doaj   +1 more source

THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE

Медицинский совет, 2018
Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy.
S. A. Loskutova, T. V. Belousova, A. B. Nikulina   +2 more
doaj   +1 more source

Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery

Педиатрическая фармакология, 2016
The deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic ...
A. A. Baranov, L. S. Namazova-Baranova, O. S. Gundobina, S. V. Mikhailova, E. U. Zakharova, E. A. Vishnyova, K. V. Savostianov, M. U. Stepanyan   +7 more
doaj   +1 more source

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

Orphanet Journal of Rare Diseases, 2021
Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity.
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones   +6 more
doaj   +1 more source

Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span

Journal of Lipid Research, 2001
Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal−/− mice appear normal at birth,
Hong Du, Martin Heur, Ming Duanmu, Gregory A. Grabowski, David Y. Hui, David P. Witte, Jaya Mishra   +6 more
doaj   +1 more source

Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C

Residência Pediátrica, 2023
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and ...
Marcella Borges, Luissa Hikari Hayashi Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Pelicer Neto-Magalhães, João Paulo Cristofolo, João Paulo Freitas, Pedro Ivo Aranas, Jacqueline Harouche Rodrigues Fonseca, Fernanda Seabra Souza Timm, Charles Marques Lourenço   +11 more
doaj   +1 more source

Sediment Vulnerability Ranking for River Basins Across the Contiguous U.S. Using Integrated Biophysical and Social‐Ecological Data

JAWRA Journal of the American Water Resources Association, Volume 62, Issue 5, October 2026.
ABSTRACT Nearly half of streams and rivers in the United States (U.S.) have fair to poor conditions for aquatic ecosystem health as declared by the U.S. Environmental Protection Agency, and sediment was identified as a primary factor impairing these waterbodies.
Nicholas A. Sutfin, Allen C. Gellis, Nancy Baker, Christopher H. Conaway, Katherine J. Skalak   +4 more
wiley   +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

“DiscoverU”: Formative Development and Mixed‐Methods Evaluation of an Afterschool Health and Well‐Being Mentoring Program for Adolescents

Journal of Community Psychology, Volume 54, Issue 6, August 2026.
ABSTRACT This manuscript describes the (1) development of the “DiscoverU” afterschool mentoring program and (2) formative evaluation of its feasibility, acceptability, and initial impact on adolescents' physical activity (PA), interpersonal skills, and social connectedness.
Katherine R. Arlinghaus, Kristen Stuenkel, Jodi Gadient, Adrianna N. Bell, Lenora P. Goodman, Nancy E. Sherwood, Barbara J. McMorris   +6 more
wiley   +1 more source