Results 81 to 90 of about 35,392 (213)

Beyond the Adult Mind: A Developmental Framework for Predictive Processing in Infancy

Topics in Cognitive Science, EarlyView.
Abstract Predictive Processing has been proposed as the single unifying computation underlying all of cognition, and proponents argue that all psychological phenomena can be explained as consequences of this principle. This theoretical framework has inspired many cognitive scientists and neuroscientists, but it currently has no developmental mechanism ...
Emma K. Ward, Danaja Rutar, Lorijn Zaadnoordijk, Francesco Poli, Sabine Hunnius   +4 more
wiley   +1 more source

Modelling Fabry disease with kidney organoids derived from human embryonic stem cells using CRISPR-Cas9 mediated gene editing [PDF]

Organoid
Background Fabry disease, a rare genetic disorder, arises from mutations in the α-galactosidase A gene (GLA), leading to Gb3 accumulation and multi-organ damage.
Su Jeong Lee, Kyung Jin Lee, Joo Hyun Jee, Hyokyung Lee, Lina Joo, Woo Hee Choi, Jongman Yoo, Hye Yun Jeong   +7 more
doaj   +1 more source

Neurological Manifestation of Fabry Disease – A Case Report [PDF]

, 2009
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme a-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including ...
Milan Bitunjac, Mira Ivanković, Vanja Bašić Kes, Vida Demarin   +3 more
core   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

A Comprehensive Review of Traditional and Machine Learning‐Assisted Diffuse Optical Spectroscopy and Imaging Techniques for Dermatological Applications

Advanced Photonics Research, Volume 7, Issue 5, May 2026.
This review critically examines clinical studies on both conventional and machine learning (ML)‐integrated diffuse optical spectroscopy and imaging methods for dermatological applications, with a primary focus on the past decade and inclusion of earlier foundational work where appropriate.
Iftak Hussain, Li Xiuting, Randall Ang Jie, Keertana Vinod Ram, Mark Teo Ju Teng, Valerie Xinhui Teo, Malini Olivo, U. S. Dinish   +7 more
wiley   +1 more source

Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [PDF]

, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all ...
Bibby, Bo M., Birn, Henrik, Christensen, Erik I., Feldt-Rasmussen, Ulla, Nielsen, Rikke, Prabakaran, Thaneas, Regeniter, Axel, Sørensen, Søren S.   +7 more
core  

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source