Results 21 to 30 of about 118,748,616 (241)

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]

open access: yesPLoS ONE, 2015
We developed an immunochromatography-based assay for detecting antibodies against recombinant α-galactosidase A proteins in serum. The evaluation of 29 serum samples from Fabry patients, who had received enzyme replacement therapy with agalsidase alpha ...
Sachie Nakano   +12 more
doaj   +1 more source

The coincidence of IgA nephropathy and Fabry disease

open access: yesBMC Nephrology, 2013
Background IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD). Case presentation A 26 year-old man underwent a renal
Maixnerová Dita   +10 more
doaj   +1 more source

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

open access: yesAnatolian Journal of Cardiology, 2022
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman   +5 more
doaj   +1 more source

Il DBS come test diagnostico nella malattia di Fabry

open access: yesGiornale di Clinica Nefrologia e Dialisi, 2017
non ...
Simone Scalia
doaj   +1 more source

Salvianolic Acid a Disrupts the HSP90α-AKT-PERK Ternary Complex to Alleviate Atherosclerosis by Activating Endoplasmic Reticulum Stress of Senescent Vascular Smooth Muscle Cells. [PDF]

open access: yesAdv Sci (Weinh)
Salvianolic acid A (SAA) selectively induces senescent vascular smooth muscle cell apoptosis, alleviating atherosclerosis. Mechanistically, SAA targets heat shock protein 90 alpha (HSP90α) to disrupt the protein inase B (AKT)‐PRKR‐Like Endoplasmic Reticulum Kinase (PERK) scaffold, driving ubiquitin‐proteasome‐dependent AKT degradation.
Guan X   +8 more
europepmc   +2 more sources

Immobilization of Streptomyces griseoloalbus alpha galactosidase and soymilk hydrolysis

open access: yes, 2021
This data is regarding the characterization of immobilized alpha galactosidase from Streptomyces griseolalbus in gelatin-alginate blended beads and hydrolysis of raffinose oligosaccharides in ...
GS, A (via Mendeley Data), G. S., Anisha
core   +1 more source

La malattia di Anderson-Fabry. Introduzione

open access: yesGiornale di Clinica Nefrologia e Dialisi, 2017
non ...
Giovanni Duro, Marco Lombardi
doaj   +1 more source

Might Be Fabry Disease?

open access: yesTurkish 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  

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

open access: yesIndian Journal of Paediatric Dermatology, 2020
Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur   +3 more
doaj   +1 more source

Novel alpha-galactosidase A mutation in a female with recurrent strokes.

open access: yes, 2012
Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase
Di Raimondo D   +12 more
core   +1 more source

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