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38.607  Articles
1 of 3.862 pages  |  10  records  |  more records»
Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient a-galactosidase A (a-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3... see more

Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient a-galactosidase A (a-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3... see more

Treatment of Fabry disease has improved since the introduction of enzyme replacement therapy (ERT). Two preparations of the recombinantenzyme a-galactosidase A are available: agalsidase alfa and agalsidase beta. We aim to report on a disease improvement a... see more

AbstractBackground: Cardiovascular magnetic resonance (CMR) can measure cardiac structure, function and characterize myocardial tissue. The full potential of CMR for Fabry disease (FD) is yet to be defined. The objective of the present work was to assess ... see more

Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease ... see more

We discuss a 56-year-old man with Fabry disease (FD), a genetic X-linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia-associated chest pain, which had occurred occasionally in the past, bu... see more

Anderson-Fabry disease (AFD) is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (a-gal A) enzyme. The disease may affect males and females, the latter with an average 10 years delay.... see more

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in th... see more

Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the fr... see more

1 of 3.862 pages  |  10  records  |  more records»