Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report
BMC Pediatrics, 2020 Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance ...
Hasani Hewavitharana +3 more
doaj +1 more source
Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]
Anais Brasileiros de Dermatologia, 2014 Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Leticia Bueno Nunes da Silva +3 more
doaj +2 more sources
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
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Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]
Kidney Research and Clinical Practice, 2021 Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung +9 more
doaj +1 more source
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
Case Reports in Nephrology, 2020 Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure.
Amaresh R. Vanga +3 more
doaj +1 more source
Scientific opinion on the safety and efficacy of AGal-Pro (alpha-galactosidase and endo-1,4-beta-glucanase) as a feed additive for chickens reared for laying and minor poultry species for fattening [PDF]
EFSA Journal, 2013 The additive AGal-Pro, also named as Biogalactosidase BL and AlphaGal BL, is a preparation of alpha-galactosidase (galactosidase) produced by a genetically modified strain of Saccharomyces cerevisiae and of endo-1,4-beta-glucanase (glucanase) produced by
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
doaj +1 more source
Dysregulated DNA methylation in the pathogenesis of Fabry disease
Molecular Genetics and Metabolism Reports, 2022 Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues.
Jin-Song Shen +12 more
doaj +1 more source
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
core +2 more sources
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]
, 2017 BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P +14 more
core +1 more source
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests [PDF]
, 2011 Background: Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families.
Giuseppina Andreotti +6 more
core +2 more sources