Results 131 to 140 of about 3,902 (192)

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N‐glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic ...
Antje Banning, Lidia Reznikova, Adla Murad, Ritva Tikkanen   +3 more
wiley   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Relative Effects of Fabry‐Perot, Mie, and Guided‐Mode Resonance in Periodic Photonic Lattice Physics

Nanophotonics, Volume 15, Issue 16, 26 August 2026.
The physical origins of resonance effects in one‐dimensional periodic photonic lattices are studied to assess the relative roles of Fabry–Perot, Mie, and guided‐mode resonance mechanisms. It is shown that lattice resonance is fundamentally governed by lateral leaky Bloch modes and their coupling to external radiation via guided‐mode resonance.
Yu Sung Choi, Keisuke Ozawa, Jae Woong Yoon, Junichi Inoue, Shogo Ura, Yeong Hwan Ko, Robert Magnusson   +6 more
wiley   +1 more source

Emergence of Multiple Polaritonic States of Water‐in‐Salt in Cavity

Nanophotonics, Volume 15, Issue 16, 26 August 2026.
Water‐in‐salt electrolytes exhibit multiple hydration‐specific OH stretching modes that cooperatively couple to a Fabry–Perot cavity, generating distinct polaritonic states. Unlike conventional water systems described by approximated homogeneous broadening, the observed multimode polariton formation reflects the interplay between vibrational ...
Tomohiro Fukushima, Keiji Moriya, Soushi Yoshimitsu, Masaki Itatani, Kei Murakoshi   +4 more
wiley   +1 more source

An Optically Transparent Metamaterial Window Based on Metal Meshes With Integrated Absorption and Transmission

Nanophotonics, Volume 15, Issue 16, 26 August 2026.
We demonstrate an optically transparent metallic‐mesh electromagnetic window that integrates radar‐frequency absorption, millimeter‐wave transmission, and visible‐light transparency within a single passive architecture, providing a new approach for multifunctional electromagnetic control.
Chaoyue Li, Chenyang Cui, Wangqi Mao, Pingping Min, Tingting Yu, Yang Zhang, Yaqiang Zhang, Chi Zhang, Hongxing Dong, Long Zhang   +9 more
wiley   +1 more source

Anderson–Fabry disease

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

Band‐Selective, Low‐Dispersion Terahertz Attenuators Based on 3D Bulk Metamaterials Leveraging De‐latticed Cross‐Bar Resonator Ensembles

Nanophotonics, Volume 15, Issue 15, 13 August 2026.
This paper presents 3D bulk metamaterials in which diced cross‐bar meta‐grains are randomly dispersed in a polymer matrix by molding. The de‐latticed composite provides isotropic and band‐selective THz attenuation with over tenfold dispersion suppression compared to the periodic metasurface.
Zhen Liu, Chikaho Nagashima, Yoshiaki Kanamori   +2 more
wiley   +1 more source