Results 141 to 150 of about 4,991,114 (167)

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy. [PDF]

Front Mol Biosci
Baldwin T, Kurdi H, Doykov I, Robertson F, Rosmini S, Nordin S, Augusto J, Kozor R, Baruteau J, Davison J, Moreno-Martinez D, Ramaswami U, Vijapurapu R, Geberhiwot T, Steeds R, Moon J, Hughes D, Mills K, Heywood WE.   +18 more
europepmc   +1 more source

A multigenerational fabry disease case caused by a <i>de novo</i> GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection. [PDF]

J Family Med Prim Care
Topsakal S, Tekin I, Tekin S, Kaya H, Çakmak V, Onay H.   +5 more
europepmc   +1 more source

Persistent troponin elevation in the heart of Fabry disease due to coronary microvascular dysfunction. [PDF]

SAGE Open Med Case Rep
Tan C, Higgins MD, Zhang Z, Hiskens M.
europepmc   +1 more source

Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis. [PDF]

BMC Nephrol
Kato H, Yokoyama T, Manabe S, Seki M, Ushio Y, Makabe S, Kobayashi S, Kataoka H, Nitta K, Hoshino J.   +9 more
europepmc   +1 more source

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease. [PDF]

Cells
Simonetta I, Baglio I, Tuttolomondo A.
europepmc   +1 more source

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience. [PDF]

Mol Genet Metab Rep
McCarron EP, Chinnadurai R, Stepien KM, Bassett J, Meyer J, Sharma R, Woolfson P, Jovanovic A.   +7 more
europepmc   +1 more source

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Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

European Journal of Clinical Investigation, 2004
Aleš Linhart, Markus Ries, Gere Sunder-Plassmann   +2 more
exaly  

Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

European Heart Journal, 2007
Atul Mehta, Aleš Linhart, Gere Sunder-Plassmann   +2 more
exaly  

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

Genetics in Medicine, 2009
Manesh Patel, Roberta Lemay, Stephen Waldek   +2 more
exaly