Results 41 to 50 of about 5,245,219 (176)
Non-specific gastrointestinal features: Could it be Fabry disease?
, 2018 Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease.
Gasbarrini A., Spada, Marina, Manna R.
core +2 more sources
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
ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya +9 more
wiley +1 more source
Corneal confocal microscopy detects neuropathy in patients with Fabry disease
, 2008 Purpose: Neuropathy is a cause of significant disability in\ud patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry ...
Marshall, Andrew G. +4 more
core +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
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
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
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
Fabry Disease - literature review [PDF]
Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common.
Adrian Muzyka +6 more
core +3 more sources
What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?
Turkish Archives of Otorhinolaryngology, 2023 Objective:Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a ...
Ekin Yiğit Köroğlu +3 more
doaj +1 more source