Results 31 to 40 of about 9,220,596 (237)

Renal Manifestations of Fabry Disease: A Narrative Review

Canadian Journal of Kidney Health and Disease, 2021
Purpose of review: In this narrative review, we describe general aspects, histological alterations, treatment, and implications of Fabry disease (FD) nephropathy.
Cassiano Augusto Braga Silva, J. A. Moura-Neto, M. A. dos Reis, O. M. Vieira Neto, F. Barreto   +4 more
semanticscholar   +1 more source

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Developments in the treatment of Fabry disease

Journal of Inherited Metabolic Disease, 2020
Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long‐term treatment may slow down disease progression, but cardiac, renal, and cerebral complications ...
S. J. Veen, C. Hollak, A. V. Kuilenburg, M. Langeveld   +3 more
semanticscholar   +1 more source

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer, Aishwarya Siddharth, Kate Leestma, Olaf Bodamer   +3 more
doaj   +1 more source

Doença de Fabry Fabry disease

Anais Brasileiros de Dermatologia, 2009
A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A.
Paula Boggio, Paula Carolina Luna, María Eugenia Abad, Margarita Larralde   +3 more
doaj   +1 more source

Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

Journal of Medical Case Reports, 2012
Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys ...
Felisati Giovanni, Salvatici Elisabetta, Pipolo Carlotta, Portaleone Sara, Riva Enrica, Giovannini Marcello   +5 more
doaj   +1 more source

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis

International Journal of Molecular Sciences, 2021
Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only
E. Viggiano, L. Politano
semanticscholar   +1 more source

Precision medicine in Fabry disease.

Nephrology, Dialysis and Transplantation, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to a deficiency in α-galactosidase A. The lysosomal accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3)
Malte Lenders, E. Brand
semanticscholar   +1 more source

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Journal of Medical Genetics, 2020
Background Fabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of ...
D. Germain, J. Oliveira, D. Bichet, H. Yoo, R. Hopkin, R. Lemay, J. Politei, C. Wanner, W. Wilcox, D. Warnock   +9 more
semanticscholar   +1 more source

Fabry Disease Therapy: State-of-the-Art and Current Challenges

International Journal of Molecular Sciences, 2020
Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the GLA gene that lead to a deficiency of the enzymatic activity of α-galactosidase A.
O. Azevedo, M. Gago, G. Miltenberger-Miltenyi, N. Sousa, Damião Cunha   +4 more
semanticscholar   +1 more source