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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Journal of Biological Chemistry, 1981 The substrate analog alpha-D-galactosylamine was synthesized, linked to 6-aminohexanoic acid, and coupled to carboxyhexyl-Sepharose. This affinity support permitted the purification of human alpha-galactosidase A (alpha-D-galactoside galactohydrolase, EC
D. Bishop, R. Desnick
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Molecular Genetics & Genomic Medicine, 2019 Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or ...
Foudil Lamari +7 more
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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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The identification of chemical compounds that decrease cellular levels of toxic Huntington's disease protein through a novel cell-based assay [PDF]
, 2006 Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2006.Vita.Includes bibliographical references.Huntington's disease (HD) is a progressive degenerative neurological disorder. Individuals who inherit the IT15 gene with an expansion
Coufal, Myra Alfert
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The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways. [PDF]
, 2015 The transition between a unicellular yeast form to multicellular filaments is crucial for budding yeast foraging and the pathogenesis of many fungal pathogens such as Candida albicans.
Höfken, T, Woods, K
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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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When should we think about Fabry disease?
Journal of Education, Health and SportAccording to the European Union definition, a rare disease is a disease that occurs with a frequency of less than 5 per 10,000. Rare diseases pose a major diagnostic problem for physicians.
Natalia Chojnacka +7 more
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Clinical and pathological features of 10 cases of Fabry’s disease with renal damage
Linchuang shenzangbing zazhi, 2020 Objective To investigate the clinical manifestations and pathological features of the hereditary disease(Fabry’s disease)with renal damage.Methods The clinical manifestations,and laboratory tests and renal pathology data of 10 cases of Fabry’s disease ...
HE Juan +4 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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