Results 41 to 50 of about 982 (163)
Journal of Inborn Errors of Metabolism and Screening, 2022 Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management.
Roberto Giugliani +7 more
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Progress in Diagnosis and Treatment of Children having Fabry Disease
罕见病研究, 2022 Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and ...
LI Xiaoxue, LIU Xiaorong
doaj +1 more source
Experimental and Therapeutic Medicine, 2018 Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study.
Yan Ouyang +9 more
openalex +5 more sources
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
Biomolecules, 2021 Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3).
Ken Kok +5 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018 Background Because systemic inflammation and endothelial dysfunction lead to heart failure with preserved ejection fraction, we characterized plasma levels of inflammatory and cardiac remodeling biomarkers in patients with Fabry disease (FD). Methods and
Haran Yogasundaram +8 more
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A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]
Kidney Research and Clinical Practice, 2023 Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi +11 more
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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Journal of Medical Genetics, 2015 Background Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investigates the value of plasma globotriaosylsphingosine (lysoGb3)
Smid, Bouwien E. +5 more
openaire +3 more sources
Case Report: First Two Identified Cases of Fabry Disease in Central Asia
Frontiers in Genetics, 2021 Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly ...
Francesca Cainelli +8 more
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Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation
Frontiers in Immunology, 2021 Fabry disease (FD) is an X-linked multisystemic lysosomal storage disease due to a deficiency of α-galactosidase A (GLA/AGAL). Progressive cellular accumulation of the AGAL substrate globotriaosylceramide (Gb3) leads to endothelial dysfunction.
Solvey Pollmann +4 more
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Fabry disease in a Japanese population-molecular and biochemical characteristics
Molecular Genetics and Metabolism Reports, 2018 We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then.
Hitoshi Sakuraba +8 more
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