Results 261 to 270 of about 9,057,553 (322)

Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease. [PDF]

Sci Rep
Kanack AJ, Prodoehl E, Ishihara-Aoki M, Aoki K, Dahms NM.   +4 more
europepmc   +1 more source

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease. [PDF]

Orphanet J Rare Dis
Lenders M, Nowak A, Cybulla M, Kaufeld J, Köhn AF, Muschol NM, Kurschat C, Brand E.   +7 more
europepmc   +1 more source

Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex. [PDF]

Cells
Biddeci G, Spinelli G, Colomba P, Duro G, Anania M, Francofonte D, Di Blasi F.   +6 more
europepmc   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs. [PDF]

Front Cardiovasc Med
Tuttolomondo A, Chimenti C, Cianci V, Gallieni M, Lanzillo C, La Russa A, Limongelli G, Mignani R, Olivotto I, Pieruzzi F, Pisani A.   +10 more
europepmc   +1 more source

Fabry Disease: A Rare Mutation With Common Clinical Presentation. [PDF]

Cureus
Certal M, Cerqueira E, Ribeiro C, Santos MB, Tavares S.   +4 more
europepmc   +1 more source

Lysosomal storage-independent Fabry disease variants with α-galactosidase A misprocessing-induced ER stress and the unfolded protein response.

Nephron
Živná M, Lenders M, Kmoch S.
europepmc   +1 more source

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Fabry's disease

Journal of the Neurological Sciences, 2014
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Divya Singhal, Rima El-Abassi, John D. England   +2 more
openaire   +2 more sources