Fabry disease: 20 novel GLA mutations in 35 families [PDF]
Diana C. Blaydon+2 more
openalex +1 more source
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [PDF]
K D MacDermot
openalex +1 more source
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies [PDF]
Christine M. Eng+16 more
openalex +1 more source
Fabry Disease (α-Galactosidase A Deficiency): Renal Involvement and Enzyme Replacement Therapy [PDF]
Robert J. Desnick+2 more
openalex +1 more source
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [PDF]
K D MacDermot
openalex +1 more source
Regional Cerebral Hyperperfusion and Nitric Oxide Pathway Dysregulation in Fabry Disease [PDF]
David F. Moore+10 more
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Aortic remodelling in Fabry disease [PDF]
Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied.
Barbey, Frédéric+8 more
core
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
David H. Calhoun+5 more
openalex +1 more source
Arterial Wall Properties and Womersley Flow in Fabry Disease [PDF]
David F. Moore+6 more
openalex +1 more source