Results 141 to 150 of about 2,063 (198)

Effect of lyso-Gb3 on the intestinal microbiota may contribute to gastrointestinal symptoms in Fabry’s disease patients

, 2019
Resumen del trabajo presentado al 29th European Congress of Clinical Microbiology and Infectious Diseases (ECCMID), celebrado en Amsterdam (Netherlands) del 13 al 16 de abril de 2019. [Background]: Fabry’s disease is an X-linked, lysosomal storage disorder due to α-galactosidase A deficiency, characterized by the lysosomal accumulation of ...
Aguilera-Correa, John-Jairo, Sánchez-Niño, María Dolores, Ortiz, Alberto, Sáez Martínez, E. F., Martínez-Cuesta, M. Carmen, Peláez, Carmen, Esteban, Jaime, Requena, Teresa   +7 more
openaire   +1 more source

Volumetric absorptive microsampling coupled with UHPLC-MS/MS for the determination of Lyso-Gb3 as Fabry disease diagnostic biomarker

Susan Mohamed, Alessandro Perrone, Chiara Cancellerini, Erika Esposito, Alice Caravelli, Vincenzo Donadio, Rocco Liguori, Manuela Contin, Jessica Fiori   +8 more
openalex   +2 more sources

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
europepmc   +1 more source

Definition of a clinical relevant Fabry Disease by the biomarker Lyso Gb3 in patients with an alpha- Galactosidase mutation [PDF]

, 2013
Kämpf, Tanja
openalex   +1 more source

Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis. [PDF]

Clin Kidney J
Riccio E, Capuano I, Buonanno P, Iaccarino G, Cirami CL, Mignani R, Pieruzzi F, Pisani A.   +7 more
europepmc   +1 more source

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening

Alessandro P. Burlina, Vincenza Gragnaniello, Chiara Edini, Leonardo Salviati, Giulia Polo, Elena Porcù, Natan Meloni, Chiara Cazzorla, Dominique P. Germain, Alberto B. Burlina   +9 more
openalex   +1 more source

Terapia enzimatica sostitutiva nella malattia di Fabry: cosa abbiamo imparato dallo switch?

, 2014
Pisani, Antonio, Riccio, Eleonora
core  

Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies. [PDF]

Front Med (Lausanne)
Zhang M, Wang C.
europepmc   +1 more source