Results 1 to 10 of about 2,222 (118)

The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum. [PDF]

PLoS ONE
Fabry disease (FD) is the most common lysosomal storage disorder in which a severe, classical phenotype as well as a milder, non-classical phenotype can be distinguished.
Laura van Dussen, Emilie V Albers, Saskia N van der Crabben, Ronald H Lekanne Deprez, Astrid S Plomp, Mirjam Langeveld   +5 more
doaj   +2 more sources

Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?

Orphanet Journal of Rare Diseases, 2022
Background Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based on signs that ...
Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West, Sandro Feriozzi   +9 more
doaj   +1 more source

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot   +11 more
doaj   +1 more source

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells

EBioMedicine, 2020
Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to ...
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han   +9 more
doaj   +1 more source

Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

Brazilian Journal of Nephrology, 2020
Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide ...
Luciana Senra de Souza Sodré, Rosália Maria Nunes Henriques Huaira, Fernando Antônio Basile Colugnati, Moises Carminatti, Luciane Senra de Souza Braga, Marcelo Paula Coutinho, Natália Maria da Silva Fernandes   +6 more
doaj   +2 more sources

Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report

Journal of Cardiovascular Development and Disease, 2023
The cardiac variant of Fabry disease (FD) has high rates of missed diagnosis and misdiagnosis due to the lack of systemic symptoms. Here, we report a case of a 68-year-old female with delayed-onset FD presenting as concentric left ventricular hypertrophy
Maomao Zhao, Xiaowei Niu, Lu Bai, Yinchang Zhang, Ting Wang, Yongling Wa, Junchu Wei, Kang Dong, Xin Zhang, Ming Bai   +9 more
doaj   +1 more source

Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease

Orphanet Journal of Rare Diseases, 2021
Background The systematic collection of disease-specific symptoms and impacts on the lives of patients with Fabry Disease (FD) can offer unique insights into the patient experience, yet no disease-specific tool to measure FD symptoms exists.
Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Robert J. Hopkin   +4 more
doaj   +1 more source

Fabry Cardiomyopathy: Current Practice and Future Directions

Cells, 2021
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficient galactosidase A enzyme and subsequent accumulation of glycosphingolipids throughout the body.
Jeffrey Yim, Olivia Yau, Darwin F. Yeung, Teresa S. M. Tsang   +3 more
doaj   +1 more source

A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period

Case Reports in Cardiology, 2019
Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout
Su Nam Lee, Gee-Hee Kim, Ki-Dong Yoo
doaj   +1 more source

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

BMC Nephrology, 2023
Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene.
Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich, Francesca Viazzi   +13 more
doaj   +1 more source