Results 171 to 180 of about 3,903 (211)
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Neurology of Fabry disease

Internal Medicine Journal, 2007
AbstractBackground: Fabry disease has diverse neurological manifestations, many of which influence morbidity and quality of life.Aims: The aim of the study was to document the clinical and subclinical neurological manifestations in a cohort of Australian patients with Fabry disease, using multiple clinical tools and a multidisciplinary approach ...
M, Low   +7 more
openaire   +2 more sources

Stroke in Fabry's disease

Journal of Neurology, 1993
This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients developed ischemic strokes involving small
openaire   +2 more sources

The heart in Fabry's disease

Cardiovascular Pathology, 2011
Fabry's disease (FD) is a rare X-linked recessive genetic disorder that leads to premature mortality as a result of renal, cardiovascular, or cerebrovascular complications. FD is caused by a deficiency of α-galactosidase A (alpha-Gal A), due to mutations in the GLA gene.
openaire   +2 more sources

Anderson-Fabry disease*

British Journal of Dermatology, 2006
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
openaire   +2 more sources

Fabry's disease

The Lancet, 2011
Gomathy, Sethuraman   +3 more
openaire   +2 more sources

Fabry disease [Malattia di Fabry]

2006
[No abstract available]
D. Innocenzi   +5 more
openaire   +1 more source

Chaperone Therapy in Fabry Disease

International Journal of Molecular Sciences, 2022
Frank Weidemann   +2 more
exaly  

Fabry’s Disease

New England Journal of Medicine
Stephen Soloway, Denise Lister
openaire   +2 more sources

Key role of α-synuclein in Fabry nephropathy

Nature Reviews Nephrology, 2023
Carney Ellen F
exaly  

Biomarkers in Anderson–Fabry Disease

International Journal of Molecular Sciences, 2020
Antonino Tuttolomondo   +2 more
exaly  

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