Rare Diseases

Current bibliography for experts

"Cerebrovascular Disease" search results...

ENZIM REPLASMA TERAPISI

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

2023-03-29

This paper presents a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

FABRY

Cognitive dysfunction and white matter hyperintensities in Fabry disease

2022-01-07

Neuropsychological assessment and rehabilitation should be routinely offered to patients with Fabry Disease.

FABRY

Stroke and Fabry Disease: A Review of Literature

2020-12-14

This review summarizes the current knowledge of the pathophysiology, neuroradiology, treatment, and prognosis of cerebrovascular disease in Fabry patients.

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