Results 141 to 150 of about 22,577 (254)

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations. [PDF]

Stem Cell Res
Patra D, Cabrera DGT, Yang X, Walther P, Mukherjee S, Sampson J, Wu JC.   +6 more
europepmc   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +1 more source

Sequential and Concurrent C5 and Neonatal Fc Receptor Inhibition in Prolonged Myasthenic Crisis due to Advanced Invasive Thymoma‐Associated Myasthenia Gravis: A Case Report and Literature Review

Clinical and Experimental Neuroimmunology, Volume 17, Issue 4, November 2026.
ABSTRACT Thymoma‐associated myasthenia gravis (TAMG) is frequently refractory, particularly when complicated by myasthenic crisis in advanced invasive disease. Complement C5 inhibitors and neonatal Fc receptor (FcRn) inhibitors have expanded the treatment of acetylcholine receptor (AChR) antibody‐positive generalized myasthenia gravis; however, their ...
Yuta Kizuka, Yuriko Nakamura, Kensuke Okada, Yu Okubo, Kaoru Kaseda, Hirofumi Toyama, Keisuke Asakura, Atsuya Takeda, Jin Nakahara, Kei Ishizuchi   +9 more
wiley   +1 more source

Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease. [PDF]

Intractable Rare Dis Res
Li G, Luan J, Li Z, Yang Y, Shao C, Wang J, Han Z, Wang Q, Zhu Y, Yu C, Cui Y, Han J.   +11 more
europepmc   +1 more source

Integration of hBN Single‐Photon Emitters Into a Hybrid Optomechanical Membrane‐In‐The‐Middle Fiber‐Cavity

Nanophotonics, Volume 15, Issue 19, 13 October 2026.
Deterministic manipulation of hexagonal boron nitride (hBN) flakes enables single‐photon emitters (SPEs) to be integrated into a fiber‐based Fabry–Pérot membrane‐in‐the‐middle cavity. Cavity coupling enhances and spectrally funnels the broadband emitter fluorescence, while allowing access to mechanical membrane modes for future hybrid optomechanical ...
P. Maier, A. Kubanek
wiley   +1 more source

Coronary stenosis in Fabry disease with optical coherence tomography imaging presentation: a case report. [PDF]

Eur Heart J Case Rep
Peng Z, Zheng B, Zhao Y, Zhang W, Ma W.
europepmc   +1 more source

Arbitrary Wavefront Manipulation in Real Space and Momentum Space Based on Elliptical Structures

Nanophotonics, Volume 15, Issue 19, 13 October 2026.
Leveraging elliptical structures—while preserving real space arbitrary wavefront manipulation—we generalize the manipulation to momentum space rather than only sustaining topological singularities. Multifunctional integrated outputs, such as beam deflection and focusing, can be flexibly achieved in the near–infrared communication band, and the ...
Siqi Chang, Xiaomei Gao, Zhiyang Xu, Fangyuan Liu, Tianrui Zhai   +4 more
wiley   +1 more source

ECG parameters to detect cardiac involvement in Fabry disease. [PDF]

BMC Cardiovasc Disord
Wang Y, Kong J, Wang J, Zhao R, Wang H, Zhu JF, Zhou BY, Ma CS, Zou C, Jiang TB, Fan JL, Sun SJ.   +11 more
europepmc   +1 more source

Cardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease. [PDF]

Medeni Med J
Makarov I, Roy Y, Mitrofanova L.
europepmc   +1 more source