Results 91 to 100 of about 9,057,553 (322)
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 +13 more
core
An optical fibre dynamic instrumented palpation sensor for the characterisation of biological tissue [PDF]
, 2015 The diagnosis of prostate cancer using invasive techniques (such as biopsy and blood tests for prostate-specific antigen) and non-invasive techniques (such as digital rectal examination and trans-rectal ultrasonography) may be enhanced by using an ...
Hammer, S. J. +6 more
core +1 more source
Stroke and Fabry Disease: A Review of Literature
Cureus, 2020 Fabry disease is an X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene, leading to the deficiency of alpha-galactosidase A enzyme.
V. Mishra +8 more
semanticscholar +1 more source
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 +9 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 +4 more
wiley +1 more source
The Changing Landscape of Fabry Disease.
American Society of Nephrology. Clinical Journal, 2020 Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA gene causing complete or partial deficiency of the enzyme α -galactosidase A ( α -Gal A), and subsequent slow accumulation of mainly globotriaocylceramide (Gb3 or GL3)
E. Svarstad, H. Marti
semanticscholar +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
Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]
, 2014 Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan +5 more
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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
Glycosaminoglycans and Fabry's disease
Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, 2010 -
Zinellu E +10 more
openaire +5 more sources