Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]
PLoS ONE, 2015 Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved,
David G Warnock +18 more
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Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa [PDF]
, 2014 BackgroundFabry disease is an X-linked inherited lysosomal storage disease that can be treated with the enzymes of agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal).
Chiang, Chuan-Chi +13 more
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PLoS ONE, 2017 BackgroundAnderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided
Regina El Dib +5 more
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Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis
Genetics and Molecular Biology, 2012 The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD.
Taciane Alegra +4 more
doaj +1 more source
Clinical features and enzyme replacement therapy in 10 children with Fabry disease
Frontiers in Pediatrics, 2023 ObjectiveTo summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children.MethodsThe clinical data, laboratory tests, genetic variations and treatment of 10 FD children diagnosed in Shandong Provincial ...
Qian Li +16 more
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Safe and Successful Treatment With Agalsidase Beta During Pregnancy in Fabry Disease [PDF]
, 2015 WOS: 000363832600010PubMed: 26338166Fabry disease, an X-linked lysosomal storage disorder, is caused by alpha-galactosidase A deficiency and leads to accumulation of glycospinhgolipids in most tissues, with life-theratening consequences in the kidney ...
Bahçebaşı, Zerrin Bicik +1 more
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Frontiers in Cardiovascular Medicine, 2023 AimsCardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and mortality. This study investigates the effects of FD-specific treatment using enzyme replacement therapy (ERT) and chaperone therapy on left atrial (LA) function using two ...
Christian Pogoda +7 more
doaj +1 more source
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry [PDF]
, 2016 Background Agalsidase beta is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low alpha-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and ...
Wanner, Christoph +17 more
core +1 more source
Enzyme Replacement Therapy in the Treatment of Fabry Disease
罕见病研究, 2023 Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of ...
YU Che, WANG Rong
doaj +1 more source
Frontiers in Immunology, 2023 Polyethylene glycol (PEG)ylated drugs are used for medical treatment, since PEGylation either decreases drug clearance or/and shields the protein from undesirable immunogenicity.
Malte Lenders +3 more
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