Results 51 to 60 of about 35,392 (213)
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
core
Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]
, 2017 Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David +8 more
core +1 more source
The Canadian Journal of Chemical Engineering, EarlyView.Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía +3 more
wiley +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
Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]
, 2016 Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro +2 more
core +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
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
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources
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