Results 61 to 70 of about 9,057,553 (322)

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end ...
Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic   +6 more
doaj   +1 more source

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PLoS ONE, 2013
Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease.
Sachie Nakano, Yoshihito Morizane, Noriko Makisaka, Toshihiro Suzuki, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Hitoshi Sakuraba, Futoshi Shibasaki   +8 more
doaj   +1 more source

Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]

, 2016
Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro, Mischak, Harald, Zürbig, Petra   +2 more
core   +1 more source

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

Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report

Türk Kardiyoloji Derneği Arşivi, 2016
Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies.
Ahmet Taha Alper, Adnan Kaya, Ahmet İlker Tekkesin, Ahmet Oz   +3 more
doaj   +1 more source

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic ...
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney   +8 more
doaj   +1 more source

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

Turkish Archives of Otorhinolaryngology, 2023
Objective:Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a ...
Ekin Yiğit Köroğlu, Asena Gökçay Canpolat, Suna Yılmaz, Özgür Demir   +3 more
doaj   +1 more source

Multiplexed Bio‐detection on an Interferometric Optical Waveguide Assembly

Advanced Materials Interfaces, EarlyView.
Multiplexed remote bio‐detection is demonstrated through an image conduit composed of 3012 individual cores and coated with interferometric layers. The proof of concept of biodetection is performed through the kinetic monitoring of two complementary DNA strands hybridization paving the way for applications in multiplex in situ biosensing, and ...
Oleksii Bratash, Rémi Courson, Laurent Malaquin, Thierry Leichle, Arnaud Buhot, Loïc Leroy, Elodie Engel   +6 more
wiley   +1 more source

Migalastat: A Review in Fabry Disease

Drugs, 2019
Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-galactosidase A activity resulting from mutations in the GLA gene. Migalastat (Galafold™), a pharmacological chaperone, stabilizes and facilitates trafficking of amenable ...
Emma H. McCafferty, L. Scott
semanticscholar   +1 more source