Results 61 to 70 of about 9,220,596 (237)
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
Orphanet Journal of Rare Diseases, 2010 Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
Germain Dominique P
doaj +1 more source
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
Molecular Genetics and Metabolism Reports, 2021 Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura +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
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
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +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
Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
Revista Portuguesa de Cardiologia, 2014 Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually ...
Elisabete Martins +6 more
doaj +1 more source
Cornea verticillata in Fabry disease [PDF]
Терапевтический архив, 2018 Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev +6 more
doaj +1 more source