Results 81 to 90 of about 16,061 (232)

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

Arrhythmogenesis in Fabry Disease

Current Cardiology Reports
Abstract Purpose of Review Fabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to deficiency in the enzyme α-galactosidase A. Cardiac sphingolipid accumulation triggers various types of arrhythmias, predominantly ventricular arrhythmia, bradyarrhythmia,
Roy, Ashwin, Cumberland, Max J., O’Shea, Christopher, Holmes, Andrew, Kalla, Manish, Gehmlich, Katja, Geberhiwot, Tarekegn, Steeds, Richard P.   +7 more
openaire   +2 more sources

Redefining the Pulvinar Sign in Fabry Disease [PDF]

, 2017
BACKGROUND AND PURPOSE: The pulvinar sign refers to exclusive T1WI hyperintensity of the lateral pulvinar. Long considered a common sign of Fabry disease, the pulvinar sign has been reported in many pathologic conditions.
Cervo, A.,, Pieruzzi, F.,, Brunetti, A.,, A. Pisani, Palma, G.,, Cocozza, S.,, Feriozzi, S.,, A. Cervo, C. Russo, R. Mignani, Olivo, G., Tedeschi, E., Russo, C., Feriozzi, S., S. Feriozzi, Veroux, M.,, Imbriaco, M.,, Riccio, E.,, M. Imbriaco, G. Palma, M. Veroux, Cervo, A., D. Concolino, Pontillo, G.,, Y. Battaglia, P. Borrelli, Concolino, D.,, E. Riccio, Cocozza, S., Pieruzzi, F., Russo, C.,, Riccio, E., Palma, G., Borrelli, P.,, S. Cocozza, G. Olivo, Pisani, A.,, Concolino, D., Pisani, A., Imbriaco, M., Battaglia, Y.,, E. Tedeschi, Olivo, Gaia,, Borrelli, P., Mignani, R., A. Brunetti, Tedeschi, E.,, G. Pontillo, Pontillo, G., Battaglia, Y., Brunetti, A., Mignani, R.,, F. Pieruzzi, Veroux, M.   +53 more
core   +1 more source

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

Molecular Pain, 2016
Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease.
Nurcan Üçeyler MD, Lydia Biko, Dorothea Hose, Lukas Hofmann BSc, Claudia Sommer MD   +4 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Nanophotonic Biosensors and the Paradigm of Trans‐Scale Autonomous Bio‐Integrated Diagnostics for Addressing Health Complexities

Electron, EarlyView.
Physics‐driven advances in optical nanobiosensors for rapid, miniaturized, and point‐of‐care diagnostics for next‐generation decentralized and personalized healthcare based on sensor intelligence. ABSTRACT Public health emergencies and the escalating burden of chronic diseases necessitate a paradigm shift from centralized laboratory testing to rapid ...
Vishal Chaudhary, Harsh Sable, Sonu Sonu, Lakshita Phor, Reddicherla Umapathi, Pradeep Bhadola   +5 more
wiley   +1 more source

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Autophagosome maturation is impaired in Fabry disease [PDF]

, 2010
International audienceFabry disease is a lysosomal storage disorder (LSD) caused by a deficiency in α-galactosidase A. The disease is characterized by severe major organ involvement, but the pathologic mechanisms responsible have not been elucidated ...
Annie Laquerrière Annie Laquerrière, Barbey, F., Yasmina Ramdani, Frédéric Barbey, Annie Laquerrière, Annie Laquerrière, Annie Laquerriere, A. L., Chévrier, Marc, Damien Genty, Bekri, Soumeya, Bekri, S., Lesueur, Celine, Noureddine Brakch, Lesueur Céline, Solange Moll, Brasse-Lagnel, C., Carole Brasse-Lagnel, Chevrier, M., Ramdani, Yasmina, Djavaheri-Mergny, M., Brakch, N., Barbey, Frédéric, Ramdani, Y., Céline, Lesueur, Genty, Damien, Brakch, Noureddine, Brasse-Lagnel, Carole, Celine, L., Djavaheri-Mergny, Mojgan, Marc Chévrier, Laquerriere, Annie, Mojgan Djavaheri-Mergny, Soumeya Bekri, Moll, Solange, Genty, D.   +33 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source