A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy [PDF]
Kidney MedicineThe present case documents a 17-year-old woman patient with nephrotic syndrome who was diagnosed with Fabry disease complicated by idiopathic multicentric Castleman disease (iMCD) and membranous nephropathy.
Machiko Oka +2 more
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Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report [PDF]
Molecular Genetics and Metabolism ReportsFabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign.
Nicola Vitturi +5 more
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Cellular signaling pathway of Shiga toxin-induced ATP release [PDF]
Frontiers in Cellular and Infection MicrobiologyBackgroundShiga toxin (Stx) is the main virulence factor of enterohemorrhagic Escherichia coli, a food-borne pathogen that colonizes the intestine causing gastroenteritis and, in severe cases, hemolytic uremic syndrome.
Karl Johansson +4 more
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Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity [PDF]
Advanced ScienceCutaneous fibroblast heterogeneity is mechanistically linked to wound repair outcomes and fibrotic progression, with glycosphingolipid metabolism emerging as a critical determinant of physiological fibroblast diversity.
Sujie Xie +13 more
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Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]
J Inherit Metab DisAAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H +11 more
europepmc +2 more sources
An Unusual Etiology of Bayés' Syndrome: Fabry Disease
Annals of Noninvasive ElectrocardiologyWe present the case of a 72‐year‐old female with Fabry disease who developed an advanced interatrial conduction block and atrial fibrillation, a condition known as Bayés' syndrome.
Nicholas E. Kunce +3 more
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Long‐Term Clinical‐Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM).
Andrea Frustaci +11 more
doaj +2 more sources
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease [PDF]
BMC NephrologyAnderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved ...
Gian Marco Berti +15 more
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Clinical heterogeneity in Fabry disease: A clinical case [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023 Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
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Catfish Egg Lectin Enhances the Cytotoxicity of Sunitinib on Gb3-Expressing Renal Cancer Cells
Biomedicines, 2023 Metastatic renal cell carcinoma (RCC) is not sufficiently responsive to anticancer drugs, and thus, developing new drugs for advanced RCC remains vital.
Jun Ito +4 more
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