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
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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
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Compression behavior of the enzyme ß-galactosidase [PDF]
, 2004 This thesis is based on the investigation of the compression behavior of a solid model enzyme. It was the scope of this work to characterize the behavior of the enzyme powder under pressure to gain on the one hand information about the behavior of ...
Kuny, Tanja Tamara
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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)
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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
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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
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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
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Bloating and gas formation: modern opportunities for treatment
Лечащий Врач, 2021 Bloating is a subjective feeling of excessive gas formation and passage of gasses. It is more common in patients with gastrointestinal disorders. For therapy of disorders involving excessive gas formation, fermentative nutraceutical containing alpha ...
L. I. Butorova +4 more
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Biochemical properties of digestive carbohydrases from the sugar beet weevil, Lixus incanescens (Coleoptera: Curculionidae) [PDF]
Arthropods, 2013 The sugar beet weevil, Lixus incanescens B., is one of the most important pests of sugar beet plant in Iran. The petioles and leaves of sugar beet are attacked by larvae and adults of the sugar beet weevil.
Seyed Mohammad Ahsaei +2 more
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, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A +32 more
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