Results 11 to 20 of about 4,991,114 (167)

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease [PDF]

Frontiers in Cardiovascular Medicine
Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme.
Oriana De Marco, Jessica Gambardella, Jessica Gambardella, Antonio Bianco, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Ivana Capuano, Maria Amicone, Teodolinda Di Risi, Teodolinda Di Risi, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Antonio Pisani, Guido Iaccarino, Guido Iaccarino, Daniela Sorriento, Daniela Sorriento   +19 more
doaj   +3 more sources

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

Biomedicines, 2020
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a
Massimiliano Veroux, Ines P. Monte, Margherita S. Rodolico, Daniela Corona, Rita Bella, Antonio Basile, Stefano Palmucci, Maria L. Pistorio, Giuseppe Lanza, Concetta De Pasquale, Pierfrancesco Veroux, on behalf of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation   +11 more
doaj   +2 more sources

Fabry Disease - literature review [PDF]

Journal of Education, Health and Sport
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. It results from deficient alpha-galactosidase activity, leading to the accumulation
Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Adrian Muzyka, Julia Rydzek, Ewa Gardocka   +6 more
doaj   +4 more sources

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation [PDF]

Medicina, 2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation.
Agnė Čerkauskaitė, Rimantė Čerkauskienė, Marius Miglinas, Arvydas Laurinavičius, Can Ding, Arndt Rolfs, Lina Vencevičienė, Jūratė Barysienė, Edita Kazėnaitė, Eglė Sadauskienė   +9 more
doaj   +2 more sources

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations [PDF]

Frontiers in Cardiovascular Medicine
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction. Exercise intolerance and fatigue are frequent and early findings in FD patients,
Jessica Gambardella, Jessica Gambardella, Eleonora Riccio, Antonio Bianco, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Teodolinda Di Risi, Alessandro Viti, Roberta Avvisato, Antonio Pisani, Antonio Pisani, Daniela Sorriento, Daniela Sorriento, Guido Iaccarino, Guido Iaccarino   +15 more
doaj   +3 more sources

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +2 more sources

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures. [PDF]

J Inherit Metab Dis
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Janssens M, van der Veen SJ, van Dussen L, van Kuilenburg ABP, Brands MMMG, Langeveld M.   +5 more
europepmc   +2 more sources

Could Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Fabry disease is a rare X‐linked lysosomal storage disorder that can affect multiple organs. Cardiac involvement, one of its significant manifestations, can begin in childhood and is more prevalent in males, with severity increasing with age and disease progression.
Shabanian R, Dadkhah M, Doroudian R, Adib M, Naderi S, Ashkboos K.   +5 more
europepmc   +2 more sources

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
core   +1 more source