Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
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Journal of Inborn Errors of Metabolism and Screening, 2022 Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X-linked ...
Jesus Alfredo Uribe-Ardila +1 more
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Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch. [PDF]
, 2020 Male factor infertility is a problem in today's society but many underlying causes are still unknown. The generation of a conditional Sertoli cell (SC)-specific connexin 43 (Cx43) knockout mouse line (SCCx43KO) has provided a translational model ...
Behr, Rüdiger +10 more
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Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase [PDF]
Analytical and Bioanalytical Chemistry, 2009 Alpha-galactosidase A hydrolyzes the terminal alpha-galactosyl moieties from glycolipids and glycoproteins in lysosomes. Mutations in alpha-galactosidase cause lysosomal accumulation of the glycosphingolipid, globotriaosylceramide, which leads to Fabry disease.
Zhen-Dan, Shi +8 more
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Characterization of small fiber pathology in a mouse model of Fabry disease
eLife, 2018 Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms of unknown pathophysiology.
Lukas Hofmann +9 more
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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]
PLoS 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
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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
, 2018 BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva +15 more
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The coincidence of IgA nephropathy and Fabry disease
BMC 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
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p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Anatolian 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
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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