Results 51 to 60 of about 9,057,553 (322)
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]
, 2002 Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM +6 more
core +1 more source
Fabry disease: genetics, pathology, and treatment.
Revista da Associação Médica Brasileira, 2020 Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed.
Thaíza Passaglia Bernardes +2 more
semanticscholar +1 more source
Anderson-Fabry disease: a multiorgan disease. [PDF]
, 2013 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo +5 more
core +1 more source
Biomarkers in Anderson–Fabry Disease
International Journal of Molecular Sciences, 2020 Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of ...
I. Simonetta +3 more
semanticscholar +1 more source
Echocardiography in Fabry Disease [PDF]
Cardiogenetics, 2013 Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system.
Niemann, Markus, Weidemann, Frank
openaire +3 more sources
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
core +2 more sources
Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.
PLoS ONE, 2014 A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk.
Nurcan Uçeyler +7 more
doaj +1 more source
A 15-year perspective of the fabry outcome survey [PDF]
, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M +9 more
core +2 more sources
Clinical Genetics, 2019 Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A).
D. Germain +8 more
semanticscholar +1 more source
Medical Journal of Dr. D.Y. Patil University, 2015 Fabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.
Nikhil Gupta +3 more
openaire +3 more sources