Results 71 to 80 of about 16,061 (232)

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

Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan

Journal of Patient-Reported Outcomes, 2022
Plain English summary Adults with Fabry disease experience severe challenges, which adversely impact their quality of life (QOL). As it is a rare disease, non-patients lack awareness of the severity of its symptoms and the resultant social difficulties ...
Yuta Koto, Wakana Yamashita, Yoko Lee, Nozomi Hadano, Chikara Kokubu, Norio Sakai   +5 more
doaj   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2014
Fabry disease is an X-linked disorder resulting from mutations of the gene that encodes the lysosomal hydrolase α -galactosidase A, and leads to progressive lysosomal accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids.[1][1] In classically affected male patients ...
David G, Warnock, Michael, Mauer
openaire   +2 more sources

Cornea verticillata in Fabry disease [PDF]

Терапевтический архив, 2018
Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev, D S Ismailova, A S Moiseev, N M Bulanov, E A Karovaikina, N R Nosova, V V Fomin   +6 more
doaj   +1 more source

Fabry Disease - literature review [PDF]

Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common.
Adrian Muzyka, Julia Wąż, Julia Rydzek, Krystian Wdowiak, Agnieszka Maciocha, Ewa Gardocka, Aleksandra Witas   +6 more
core   +4 more sources

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease

BMC Nephrology
Background Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity.
Seyda Gul Ozcan, Necmi Eren, Mevlut Tamer Dincer, Zeynep Atli, Murat Bolayirli, Metin Ergul, Hakan Ozer, Kultigin Turkmen, Sinan Trabulus, Nurhan Seyahi   +9 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

A phenomap of TTR amyloidosis to aid diagnostic screening

ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +1 more source

Fabry disease and the heart

Best Practice & Research Clinical Endocrinology & Metabolism, 2015
Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including heart, kidney and nerve system.
Seydelmann, Nora, Wanner, Christoph, Störk, Stefan, Ertl, Georg, Weidemann, Frank   +4 more
openaire   +2 more sources