Results 1 to 10 of about 866 (103)

Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy―Avoiding in vitro inhibition effects [PDF]

Molecular Genetics and Metabolism Reports
Assessment of α-galactosidase A (α-GAL) activity is a reliable method for evaluating the pharmacological efficacy of migalastat (Galafold) in Fabry disease patients undergoing chaperone therapy.
Miyo Munakata, Takeo Iwamoto, Wu Chen, Keiko Akiyama, Yoshikatsu Eto   +4 more
doaj   +2 more sources

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients’ expectations and preferences from the prospective, non-interventional SATIS-Fab study [PDF]

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a progressive X-linked lysosomal disorder caused by GLA variants resulting in deficient α-galactosidase A enzyme activity, glycolipid accumulation, and multisystemic dysfunction.
Olivier Lidove, Agathe Masseau, Grégory Pugnet, Didier Lacombe, Bertrand Dussol, Soumeya Bekri, Albert Hagège, Caroline Martinez, Yann Fardini, Alain Fouilhoux, Esther Noël   +10 more
doaj   +2 more sources

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease

Life, 2023
Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy, myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral pharmacological chaperone, was associated with a stabilization of cardiac ...
Pierre Monney, Olivier Dormond, Gere Sunder-Plassmann   +2 more
exaly   +3 more sources

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign.
Nicola Vitturi, Giorgia Gugelmo, Francesca Zanini, Gianni Carraro, Livia Lenzini, Andrea Leonardi   +5 more
doaj   +2 more sources

GLA is associated with ESCC progression and chemotherapy response via DNA damage repair–related pathways [PDF]

Frontiers in Oncology
BackgroundEsophageal squamous cell carcinoma (ESCC) is a highly lethal malignancy frequently complicated by chemoresistance. α-Galactosidase A (GLA), a lysosomal hydrolase associated with poor prognosis in multiple cancers, has not been investigated in ...
Ke Chen, Ke Chen, Qinsong Yang, Chen Fang, Weiran Zhang, Yu Feng, Haitao Ma, Haitao Ma   +7 more
doaj   +2 more sources

Pharmacokinetic evaluation of single-dose migalastat in non-Fabry disease subjects with ESRD receiving dialysis treatment, and use of modeling to select dose regimens in Fabry disease subjects with ESRD receiving dialysis treatment. [PDF]

PLoS ONE
BackgroundFabry disease (FD) is an X-linked lysosomal disorder leading to multiorgan dysfunction, including renal impairment and the risk of significant accumulation for renally excreted drugs. Migalastat, an approved therapy in FD patients with amenable
Franklin K Johnson, Shirley Wu, Ginny Schmith, Hadis Williams, Jasmine Rutecki, Atef Halabi, Thorsten Feldkamp, Anthony Sileno   +7 more
doaj   +2 more sources

Impact of migalastat on cerebral outcomes in fabry disease – results from the prospective observational FAMOUS trial [PDF]

Neurological Research and Practice
Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds.
Momoko Choudhury, Malte Lenders, Pauline Laufer, Max Masthoff, Sima Canaan-Kühl, Christine Kurschat, Nicole Muschol, Julia B. Hennermann, Markus Cybulla, Jessica Kaufeld, Eva Brand, Antje Bischof   +11 more
doaj   +2 more sources

Dapagliflozin in Patients With CKD With Fabry Disease [PDF]

Kidney International Reports
Introduction: Sodium-glucose cotransporter 2 (SGLT2) inhibitors have been demonstrated to reduce proteinuria and disease progression in people with chronic kidney disease (CKD), but data in Fabry disease (FD) are scant.
Yuri Battaglia, Nicola Vitturi, Giacomo Marchi, Federica Baciga, Federica Caccia, Giorgia Gugelmo, Loris Martinetti, Lucia Federica Stefanelli, Sara Torresani, Antonio Pisani, Eleonora Riccio, Pasquale Esposito, Francesca Viazzi, Cristina Chimenti, Francesca Katiana Martino, Livia Lenzini, Annalisa Sechi, Luca Zanoli, Domenico Girelli, Gian Paolo Fadini, Federico Nalesso, Gianni Carraro   +21 more
doaj   +2 more sources

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

Molecular Genetics and Metabolism Reports, 2021
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERT-experienced patients with Fabry disease is not well defined.
Roser Torra, Roberto Giugliani, Kathleen Nicholls   +2 more
exaly   +3 more sources

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience [PDF]

Molecular Genetics and Metabolism Reports
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement.
Eamon P. McCarron, Rajkumar Chinnadurai, Karolina M. Stepien, John Bassett, Jonathan Meyer, Reena Sharma, Peter Woolfson, Ana Jovanovic   +7 more
doaj   +2 more sources