Results 71 to 80 of about 3,952,882 (246)

Hydrogel platforms for 3D cardiac tissue engineering and fibrotic disease modelling

FEBS Open Bio, EarlyView.
Hydrogel‐based cardiac tissue models are advancing our understanding of heart health and disease. By incorporating electrical conductivity, aligned structures, and tunable mechanical properties, these platforms better replicate the complex environment of native heart tissue.
Harrison Porritt, Annika Winbo, Jenny Malmström   +2 more
wiley   +1 more source

Enzyme replacement therapy in paediatric patients affected by Anderson-Fabry disease leads to improvement in arterial elasticity, but not normalization

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Introduction: Increase in blood pressure, probably due to an impairment in arterial elasticity, is frequent in patients affected by Anderson-Fabry disease (FD).
Pier Paolo Bassareo, Claudio Barbanti, Andrea Raffaele Marras, Giuseppe Mercuro   +3 more
doaj   +1 more source

Effectiveness of enzyme replacement therapy in adults with late‐onset Pompe disease: results from the NCS‐LSD cohort study

, 2014
To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe ...
V. Nikolaou, S. Waldek, Henley, W, Hughes, D A, Wyatt, K M, W. Henley, D. A. Hughes, Lachmann, R H, K. M. Wyatt, R. H. Lachmann, Nikolaou, V, Waldek, S, S. Logan, Logan, Stuart, L. J. Anderson, Anderson, L J   +15 more
core   +1 more source

Invisible burden of COVID-19: enzyme replacement therapy disruptions

, 2021
Objectives: Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or ...
Erdal, İzzet, Çıkı, Kısmet, Akar, Halil Tuna, Sivri, Hatice Serap, Dursun, Ali, Kahraman, Ayça Burcu, Tokatlı, AYŞEGÜL, Yıldız, YILMAZ   +7 more
core   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models [Review]

, 1999
The lysosomal storage disorders (LSD) are a group of severe multiple pathology disorders characterized by enzyme deficiencies which cause the lysosomal accumulation of undegraded or partially degraded macromolecules.
Brooks, D.
core   +1 more source

Acute Kidney Injury After Mechanical Thrombectomy for Stroke in Patients With Pre‐Existing Renal Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk, Marcel Pilarek, Emilia Jaworska, Natalia Kardas, Oliwia Barnaś, Julia Woźniak, Iga Machała, Julia Węgrzynek‐Gallina, Joanna Siuda, Anna Hawrot‐Kawecka, Anetta Lasek‐Bal   +10 more
wiley   +1 more source

Enzyme replacement therapy for Pompe disease [PDF]

, 2010
Pompe Disease is a rare genetic lysosomal storage disease resulting from mutations in the gene for acid alpha- glucosidase. Mutations in this gene cause a buildup of glycogen within lysosomes, leading to lysosomal engorgement and a disruption of cellular
Burris, Ryan Jonathan William
core  

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source