Results 181 to 190 of about 134,196 (290)

Anderson–Fabry disease

Journal of Cardiovascular Medicine, 2018
Alessandro, Di Toro, Valentina, Favalli, Eloisa, Arbustini   +2 more
openaire   +3 more sources

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

Spinal anesthesia in a patient with Fabry disease and multiorgan involvement: a rare case with long-term success. [PDF]

Am J Transl Res
Kim HT, Bae JH, Shin YD, Park JW, Jeong SJ, Lee JY.   +5 more
europepmc   +1 more source

Measurement and control of mechanics of cardiac trabeculae secured by light‐curable hydrogel

Experimental Physiology, EarlyView.
Abstract Isolated cardiac trabeculae are small heart muscle tissue preparations, which have been widely used in in vitro studies of mechanics and energetics function of cardiac muscle. Current instruments for such experimentation often (1) involve delicate mounting of the muscle, (2) constrain investigations to one muscle at a time, and thus (3) limit ...
Emily J. Clark Murphy, Toan Pham, June‐Chiew Han, Kenneth Tran, Khoon S. Lim, Poul M. F. Nielsen, Andrew J. Taberner   +6 more
wiley   +1 more source

Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease. [PDF]

Orphanet J Rare Dis
Quillin A, Waddel H, Gunn G, Druss J, Ali N, Wilcox W, Laney D.   +6 more
europepmc   +1 more source

Gate engineering Fabry-Pérot resonance in altermagnetic junctions. [PDF]

Sci Rep
Lv Q, Xu Y, Liu JF, Fu PH, Yu XL.
europepmc   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey. [PDF]

Eur J Clin Invest
Hughes DA, Pintos-Morell G, Kampmann C, Anagnostopoulou C, Botha J, Jain S, Nicholls K, Niu DM, Reisin R, West ML, Schenk J, Ramaswami U, Giugliani R.   +12 more
europepmc   +1 more source

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

Tapered Fiber Bragg Grating Fabry-Pérot Cavity for Sensitivity-Enhanced Strain Sensing. [PDF]

Sensors (Basel)
Zhang J, Wang C, Dai R, Tang Y, Hu J.
europepmc   +1 more source