Results 61 to 70 of about 35,392 (213)

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, D S Ismailova, A S Moiseev, N M Bulanov, E A Karovaikina, N R Nosova, V V Fomin   +6 more
doaj   +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, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +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, Teresa Pinho, Stirling Carpenter, Sérgio Leite, Raquel Garcia, António Madureira, João Paulo Oliveira   +6 more
doaj   +1 more source

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami   +9 more
doaj   +1 more source

Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease [PDF]

, 2017
Background: Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood ...
Beck, Michael, de Lorenzo, Abelardo García, Dehout, François, Gal, Andreas, Houge, Gunnar, Kampmann, Christoph, Kleinert, Julia, Linhart, Ales, Mehta, Atul, Ramaswami, Uma, Ricci, Roberta, Schwarting, Andreas, Sunder-Plassmann, Gere, Widmer, Urs   +13 more
core  

Legg-Calvé-Perthes disease and the risk of injuries requiring hospitalization [PDF]

, 2012
Background and purpose Previous studies have suggested that Legg-Calvé-Perthes disease (LCPD) is associated with repetitive trauma, coagulation problems and anatomical abnormalities of the blood supply to the femoral head. The hypothesis that repetitive
Bahmanyar, S., Ekbom, A., Hailer, Y.D., Montgomery, S., Nilsson, O.   +4 more
core   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

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, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

Might Be Fabry Disease?

Turkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +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