Results 61 to 70 of about 4,907,795 (224)
Ocular signs correlate well with disease severity and genotype in Fabry disease. [PDF]
PLoS ONE, 2015 Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease ...
Susanne Pitz +7 more
doaj +1 more source
Manifestaciones oculares de la enfermedad de Fabry en pacientes colombianos [PDF]
, 2019 Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye.This case ...
de-la-Torre, Alejandra +5 more
core +2 more sources
Pulmonary involvement in Fabry disease
, 2006 Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of ...
Barbey, F., Aubert, J.D.
core +1 more source
A phenomap of TTR amyloidosis to aid diagnostic screening
ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos +4 more
wiley +1 more source
Evolution of renal pathology in Fabry disease
, 2003 Fabry disease is a rare lysosomal storage disorder which results from deficient activity of the enzyme alpha-galactosidase A. The resultant deposition and progressive accumulation of glycosphingolipids in all types of body tissue leads to severe clinical
M. Meroni +7 more
core +1 more source
Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Brazilian Journal of NephrologyFabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene,
Gilson Biagini +7 more
doaj +1 more source
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
Kidney & Blood Pressure Research, 2016 Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients.
Kultigin Turkmen +18 more
doaj +1 more source
Journal of Patient-Reported Outcomes, 2022 Plain English summary Adults with Fabry disease experience severe challenges, which adversely impact their quality of life (QOL). As it is a rare disease, non-patients lack awareness of the severity of its symptoms and the resultant social difficulties ...
Yuta Koto +5 more
doaj +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu +9 more
wiley +1 more source
BMC NephrologyBackground Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity.
Seyda Gul Ozcan +9 more
doaj +1 more source