Results 71 to 80 of about 9,220,596 (237)

Case Report: First Two Identified Cases of Fabry Disease in Central Asia

Frontiers in Genetics, 2021
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly ...
Francesca Cainelli, Francesca Cainelli, Dias Argandykov, Dauren Kaldarbekov, Murat Mukarov, Liên Tran Thi Phuong, Dominique P. Germain, Dominique P. Germain, Dominique P. Germain   +8 more
doaj   +1 more source

Estimation of Scattering Properties Modifications Caused by In Vivo Human Skin Optical Clearing Using Line‐Field Confocal Optical Coherence Tomography

Journal of Biophotonics, EarlyView.
Line‐field confocal optical coherence tomography (LC‐OCT) is used to determine the human skin in vivo optical properties (OPs) modifications caused by biocompatible optical clearing. After a prior calibration using a phantom with determined OPs, a theoretical model is applied to mean in‐depth intensity profiles of 3D LC‐OCT images acquired during ...
Sergey M. Zaytsev, Léna Waszczuk, Jonas Ogien, Arnaud Dubois, Walter Blondel, Marine Amouroux   +5 more
wiley   +1 more source

Might Be Fabry Disease?

Turkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

Stroke and Fabry Disease: A Review of Literature

Cureus, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene, leading to the deficiency of alpha-galactosidase A enzyme.
V. Mishra, Amit Banerjee, Arohi B. Gandhi, Ifrah Kaleem, Josh Alexander, Mohamed Hisbulla, Vishmita Kannichamy, Sharathshiva Valaiyaduppu Subas, Pousette Hamid   +8 more
semanticscholar   +1 more source

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Kidney & Blood Pressure Research, 2016
Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients.
Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz   +18 more
doaj   +1 more source

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami   +9 more
doaj   +1 more source

Higher Speed Multispectral Imaging Using a Thin Liquid Crystal Layer in Metal Cavity and Artificial Intelligence Reconstruction Algorithm

Laser &Photonics Reviews, EarlyView.
A rapid multispectral imaging system is presented that integrates a 4 µm‐thick liquid crystal spectral modulator in a metal–insulator–metal (MIM) configuration with a multi‐bandpass filter (MBF). Coupled with a custom AI‐based reconstruction algorithm, the system enables accurate food quality monitoring and demonstrates the potential to capture a ...
Doron Pasha, Majd Abu Aisheh, Isaac Y. August, Ibrahim Abdulhalim   +3 more
wiley   +1 more source

The Changing Landscape of Fabry Disease.

American Society of Nephrology. Clinical Journal, 2020
Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA gene causing complete or partial deficiency of the enzyme α -galactosidase A ( α -Gal A), and subsequent slow accumulation of mainly globotriaocylceramide (Gb3 or GL3)
E. Svarstad, H. Marti
semanticscholar   +1 more source

Compact Spectral Imaging: A Review of Miniaturized and Integrated Systems

Laser &Photonics Reviews, EarlyView.
This review explores the rapid shift toward compact spectral imaging systems by examining four key design paradigms: Do‐It‐Yourself (DIY) platforms, freeform optics, filter‐on‐chip integration, and multifunctional metasurfaces. The discussion highlights critical applications in medicine, agriculture, and environmental monitoring, providing comparative ...
Sani Mukhtar, Amir Arbabi, Jaime Viegas
wiley   +1 more source

Glucose‐Responsive Modified Poly(Propylene Imine) Dendrimer for Self‐Regulated Insulin Delivery

Macromolecular Materials and Engineering, EarlyView.
Poly(propylene imine) dendrimers functionalized with phenolboronic acid (PBA) are synthesized and modified to develop a glucose‐sensitive system with a pKa of ∼7.4. Also, the equilibrium binding constant (Keq‐tet) for PBA‐attached G4 dendrimer (HB‐CBA) was determined to be 79 m−1.
Amin Hosseini Sharifabad, Tayebeh Behzad, Mehdi Salami‐Kalajahi   +2 more
wiley   +1 more source