Results 1 to 10 of about 9,220,596 (237)

Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]

Kidney Research and Clinical Practice, 2021
Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung, Mina Son, Yura Chae, Songhee Oh, Eun Sil Koh, Yong Kyun Kim, Seok Joon Shin, Cheol Whee Park, Sung-Chul Jung, Ho-Shik Kim   +9 more
doaj   +2 more sources

Lentivirus-mediated gene therapy for Fabry disease

Nature Communications, 2021
Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are expensive and require intrusive biweekly infusions; they are also not particularly efficacious.
Dwayne L Barber, Christiane Auray-Blais, Michel Boutin   +2 more
exaly   +2 more sources

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
exaly   +2 more sources

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

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   +2 more sources

Bilateral avascular necrosis: A rare complication of Fabry disease [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +2 more sources

Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents [PDF]

Molecular Genetics and Metabolism Reports
The challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives.
Masahisa Kobayashi, Ikuko Kaku, Nanae Goto, Mio Tsuchiya, Norio Sakai   +4 more
doaj   +2 more sources

Fabry disease revisited: Management and treatment recommendations for adult patients

Molecular Genetics and Metabolism, 2018
Alberto Ortiz, Dominique Germain, Robert Desnick   +2 more
exaly   +2 more sources

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations

Genes, 2023
Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme activity.
Raafiah Izhar, Margherita Borriello, Antonella La Russa, Rossella Di Paola, Ananya De, Giovambattista Capasso, D. Ingrosso, Alessandra F. Perna, M. Simeoni   +8 more
semanticscholar   +1 more source

Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease

Gene Therapy, 2023
Fabry disease is an X-linked lysosomal storage disorder caused by loss of alpha-galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of glycosphingolipids in multiple cells and tissues.
J. Jeyakumar, Azadeh Kia, Lawrence C S Tam, J. McIntosh, J. Śpiewak, K. Mills, W. Heywood, E. Chisari, N. Castaldo, D. Verhoef, Paniz Hosseini, Petya Kalcheva, Clément Cocita, Carlos J. Miranda, M. Canavese, J. Khinder, Cecilia Rosales, D. Hughes, Rose M. Sheridan, R. Corbau, A. Nathwani   +20 more
semanticscholar   +1 more source

Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease

Frontiers in Cardiovascular Medicine, 2023
AimsCardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and mortality. This study investigates the effects of FD-specific treatment using enzyme replacement therapy (ERT) and chaperone therapy on left atrial (LA) function using two ...
Christian Pogoda, Stefan-Martin Brand, Thomas Duning, Thomas Duning, Antje Schmidt-Pogoda, Jürgen Sindermann, Malte Lenders, Eva Brand   +7 more
doaj   +1 more source