Results 61 to 70 of about 16,061 (232)
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
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
Biotechnology Progress, EarlyView.Abstract Development of therapeutic bispecific antibodies (BsAbs) poses significant manufacturability challenges associated with correct chain pairing and an increased diversity of impurities. Here we address this with a product quality assessment during cell line development (CLD), forgoing the need for genetic characterization during cell line ...
Molly Robinson +7 more
wiley +1 more source
On the diagnosis of Fabry's disease
Acta Dermato-Venereologica, 1975 Fabry's disease is a recessive X-linked inborn error of metabolism due to deficiency of the lysosomal enzyme alpha-galactosidase. The large variety of symptoms may make the diagnosis difficult. A severely afflicted female patient is presented. For several years she had been treated under the diagnosis polyarteritis nodosa until the characteristic ...
S, Wadskov +4 more
openaire +2 more sources
Screening for the Frequency of Fabry Disease in Patients Followed Up in the Nephrology Outpatient Clinic [PDF]
Background: The goal of this study was to determine the prevalence of Fabry disease in the nephrology outpatient clinic population, whose diagnosis is frequently delayed despite the availability of enzyme replacement therapy today.
Demirci, Meltem Sezis +11 more
core +1 more source
Fabry disease: Treatment and diagnosis [PDF]
, 2009 Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues.
Rozenfeld, Paula +1 more
core +1 more source
Fabry disease screening in young patients with acute ischemic stroke in Korea [PDF]
, 2023 Background: Fabry disease is an X-linked lysosomal storage disorder that results from a mutation in the α-galactosidase A (GLA) gene. It shows multiple organ involvement, including cerebrovascular disease.
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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
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