Results 161 to 170 of about 2,063 (198)

Untargeted Lipidomics in Fabry Disease of Urine Samples by Low-Resolution Flow Injection Mass Spectrometry (ESI(±)-LTQ MS). [PDF]

ACS Omega
Foletto RA, Borges AS, Motta L, Lyrio MVV, Baretto CT, Campos LCG, Filgueiras PR, Barauna VG, Romão W.   +8 more
europepmc   +1 more source

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. [PDF]

, 2012
Acampora, E., Andria, G., Avolio, V., Gagliardo, C., La Marca, Giancarlo, Materazzi, Serena, Parenti, G., Pisani, A., Porto, C., Rosa, M., Tuzzi, M. R., Visciano, B.   +11 more
core  

Comparative Evaluation of AAV8 and AAV9 Gene Therapy in Fabry Knockout (<i>Gla</i>^-/y) and Symptomatic (G3S^Tg/+<i>Gla</i>^-/y) Murine Models. [PDF]

Genes (Basel)
Chang FP, Lee YT, Liu PH, Chen PS, Chen YR, Niu DM.   +5 more
europepmc   +1 more source

A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene. [PDF]

Eur Heart J Case Rep
Schnieder AL, Zellerhoff S, Bremer C, Özgün MA.   +3 more
europepmc   +1 more source

Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched <i>GLA</i> gene variants of uncertain significance. [PDF]

Clin Kidney J
Rychlík I, Francová L, Dostálová G, Pešková M, Pešičková S, Ryba M, Švára F, Nemcová Z, Dusilová Sulková S, Viklický O, Reiterová J, Ságová M, Geryk J, Krátká K, Tesař V, Linhart A, Macek M.   +16 more
europepmc   +1 more source

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease. [PDF]

BMC Nephrol
Ozcan SG, Eren N, Dincer MT, Atli Z, Bolayirli M, Ergul M, Ozer H, Turkmen K, Trabulus S, Seyahi N.   +9 more
europepmc   +1 more source

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype. [PDF]

Curr Issues Mol Biol
Singh J, Santosh P, Ramaswami U.
europepmc   +1 more source

Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathology. [PDF]

Front Neurol
Roh J, Cheon CK, Lee SY, Baik SK, Park MG, Park KP, Ahn SH.   +6 more
europepmc   +1 more source

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis. [PDF]

Med Sci (Basel)
Szczepara S, Pacia K, Trojanowicz K, Bielecka K, Tworek M, Sachajko Z, Holcman K, Podolec P, Komar M.   +8 more
europepmc   +1 more source

Progress and Challenges in the Treatment of Fabry Disease. [PDF]

BioDrugs
Lenders M, Menke ER, Brand E.
europepmc   +1 more source