Results 51 to 60 of about 2,438 (157)

Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2016
Aim of review. To acquaint general practitioners with a rarely diagnosed disease - the hereditary deficiency of lysosomal acid lipase (DLAL) which can develop under the «mask» non-alcoholic fatty liver disease (NAFLD). Summary.
M. V. Mayevskaya, V. T. Ivashkin, M. S. Zharkova, T. P. Nekrasova, G. I. Ayusheva, R. V. Maslennikov   +5 more
doaj   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice*

Journal of Lipid Research, 2008
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD).
Hong Du, Terri L. Cameron, Stephen J. Garger, Gregory P. Pogue, Lee A. Hamm, Earl White, Kathleen M. Hanley, Gregory A. Grabowski   +7 more
doaj   +1 more source

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

Clinical Genetics, Volume 108, Issue 5, Page 604-608, November 2025.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix, Patricia Dubot, Alexey V. Pshezhetsky, Philippe M. Campeau   +3 more
wiley   +1 more source

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency

Journal of Veterinary Internal Medicine, Volume 39, Issue 5, September/October 2025.
ABSTRACT Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability to properly break down and utilize lipids and in the accumulation of especially cholesterol ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
wiley   +1 more source

Advanced Imaging and Cytometric Techniques to Characterize Lipid Accumulation in Wolman Disease

Cytometry Part A, Volume 107, Issue 7, Page 464-475, July 2025.
ABSTRACT Wolman disease (WD) is a severe lysosomal storage disorder characterized by fatal lipid accumulation caused by the deficiency of a lipid metabolic enzyme, Lysosomal Acid Lipase (LAL), involved in the lysosomal hydrolysis of cholesterols and triglycerides.
Marine Laurent, Jérémie Cosette, Giulia Pavani, Sarah Bayol, Christine Jenny, Rim Harb, Julie Oustelandt, Anais Brassier, Daniel Stockholm, Mario Amendola   +9 more
wiley   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Metabolic politics: A comparative synthesis

Transactions of the Institute of British Geographers, Volume 50, Issue 2, June 2025.
Short Abstract This paper develops the concept of metabolic politics: a form of power emerging in response to the fraught and unanticipated effects generated by the industrialisation of life. Metabolic politics acts on the transformative capacities of bodies and the circulatory dynamics of materials and, as such, is distinguished from a biopolitics of ...
Maan Barua
wiley   +1 more source

Model evaluation of Stage 0 river treatment on juvenile spring Chinook in the South Fork McKenzie River, Oregon

Ecosphere, Volume 16, Issue 5, May 2025.
Abstract Low‐tech river habitat restoration techniques, including Stage 0 treatments, are increasingly applied but often lack robust evaluation of their effects and benefits. In 2018, 1 km of the South Fork McKenzie (SFMK) River, Oregon was modified to Stage 0 conditions for the benefit of ESA‐listed Chinook salmon by raising the incised channel to the
Aleah Hahn, Desiree D. Tullos, Steven F. Railsback   +2 more
wiley   +1 more source

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