Results 51 to 60 of about 6,168 (166)

Mexican consensus on lysosomal acid lipase deficiency diagnosis

Revista de Gastroenterología de México (English Edition), 2018
Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations ...
R. Vázquez-Frias, J.E. García-Ortiz, P.F. Valencia-Mayoral, G.E. Castro-Narro, P.G. Medina-Bravo, Y. Santillán-Hernández, J. Flores-Calderón, R. Mehta, C.A. Arellano-Valdés, L. Carbajal-Rodríguez, J.I. Navarrete-Martínez, M.L. Urbán-Reyes, M.T. Valadez-Reyes, F. Zárate-Mondragón, A. Consuelo-Sánchez   +14 more
doaj   +1 more source

Unveiling Endotypes in Systemic Lupus Erythematosus Through Multiomic Analysis: Insights Into Cardiovascular and Renal Complications

Arthritis &Rheumatology, Volume 78, Issue 10, Page 2124-2137, October 2026.
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó, Laurel Woodridge, Sagrario Corrales, Juan Rafael Muñoz‐Castañeda, Ana Isabel Torralbo, Anisur Rahman, Filipa Farinha, Rafaela Ortega Castro, Pedro Segui, Ismael Sanchez‐Pareja, Laura Muñoz‐Barrera, Christian Merlo, Desiree Ruiz‐Vilchez, M. Carmen Ábalos‐Aguilera, Pilar Font, Nuria Barbarroja Puerto, PRECISESADS Clinical Consortium, Lorenzo Beretta, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Miguel Angel Gonzalez‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Ma Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Marta Alarcón‐Riquelme, Alejandro Escudero‐Contreras, M. Ángeles Aguirre‐Zamorano, Carlos Perez‐Sanchez, Elizabeth C. Jury, Chary Lopez‐Pedrera   +84 more
wiley   +1 more source

Hypertriglyceridemia: Causes, Consequences, Diagnosis, and Management

MedComm, Volume 7, Issue 10, October 2026.
Hypertriglyceridemia (HTG) arises from the interplay between genetic susceptibility and secondary or precipitating factors, leading to dysregulated triglyceride‐rich lipoprotein (TRL) metabolism. Increased TRL production and impaired clearance promote distinct risk phenotypes: accumulation of apolipoprotein B(apoB)‐containing TRL remnants contributes ...
Shanshan Qi, Weiwei Chen, Kunhao Chen, Song Yang, Sibo Wang, Tongtian Ni, Dan Xu, Enqiang Mao, Erzhen Chen, Ying Chen   +9 more
wiley   +1 more source

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

Journal of Lipid Research, 1988
With the advent of nocturnal intragastric feeding which protects against acute metabolic complications and promotes growth, patients with glycogen storage disease type I are attracting less attention.
E Levy, L A Thibault, C C Roy, M Bendayan, G Lepage, J Letarte   +5 more
doaj   +1 more source

Distinct Plasma Proteomic Signatures Distinguish MASLD From Non‐Steatotic Individuals but Not From MetALD

Liver International, Volume 46, Issue 10, October 2026.
ABSTRACT Background and Aims Metabolic dysfunction associated steatotic liver disease (MASLD) is the most prevalent liver disease, yet accurate early detection remains challenging. A particular diagnostic obstacle is distinguishing MASLD from metabolic dysfunction and alcohol‐related liver disease (MetALD), currently defined using clinically informed ...
Niharika Jakhar, Tobias Seibel, Maria Mironova, Corinna Meeßen, Jan Clusmann, Yazhou Chen, Thriveni B. Raju, Paul‐Henry Koop, Juliette E. Pearce, Ivan G. Costa, Thomas Stiehl, Andreas Schuppert, Kai Markus Schneider, Yaron Rotman, Carolin V. Schneider   +14 more
wiley   +1 more source

Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the LIPA Gene in the Risk Group Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии
Aim: to study the prevalence of lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease) among high-risk patients using selective biochemical screening.Material and methods. Samples from 2805 patients are collected as dried
S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan   +4 more
doaj   +1 more source

MASH Background Confers Enhanced Disease Susceptibility and Acetaminophen Toxicity in iPSC‐Derived Liver Organoids

Advanced Science, Volume 13, Issue 53, 24 September 2026.
This work establishes a novel method for generating multicellular liver organoids from control and MASH donor iPSCs. The model recapitulates several disease‐specific characteristics, with MASH donor‐derived organoids showing higher susceptibility. Lipidomic profiling of MASH organoids closely resembles MASH liver biopsies.
Ekta Minocha, Ashwani Kumar Gupta, Nate Schmidt, Richard M. Green, John G. Purdy, Jason A. Wertheim   +5 more
wiley   +1 more source

Beyond PEG: Emerging Polymer Lipid Alternatives for Lipid Nanoparticle (LNP) Formulations

Advanced Science, Volume 13, Issue 50, 7 September 2026.
This review discusses recent advances in PEG‐alternative LNP designs, including non‐PEG polymers, zwitterionic lipids, and polypeptides. It evaluates how surface‐engineering chemistry influences LNP formation and biological behavior, and highlights current limitations and opportunities of PEG‐alternative LNPs.
Zihnil A. I. Mazrad, Yi Ju, Stephen J. Kent, Colin W. Pouton, Kristian Kempe   +4 more
wiley   +1 more source

A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.

Journal of Lipid Research, 1995
Cholesteryl ester storage disease (CESD) results from inherited deficiencies of the lysosomal hydrolase, acid lipase (LAL; E.C. 3.1.1.13). To establish the molecular defects in LAL deficiency, two unrelated probands with severely reduced LAL activity ...
D Ameis, G Brockmann, R Knoblich, M Merkel, R E Ostlund, J W Yang, P M Coates, J A Cortner, S V Feinman, H Greten   +9 more
doaj   +1 more source

Metabolic Memory in Cardiovascular Disease: Encoding, Propagation, and Therapeutic Targeting

Advanced Science, Volume 13, Issue 54, 28 September 2026.
Cardiovascular risk often persists after metabolic abnormalities are corrected. This conceptual Review frames such persistence as metabolic memory, encoded through a narrowing therapeutic window from reversible marks to irreversible damage, with continuous input from peripheral organs.
Cheng Cheng, Minghui Tang, Zhaobo Zhang, Ruoyi Qu, Jianfei Pei, Tian Liu, Siyao Qu, Shilong You, Shenshen Cui, Wenke Wang, Rui Zhao, Yingxian Sun, Naijin Zhang   +12 more
wiley   +1 more source