Fabry disease: the current treatment landscape
M Lenders, E Brand - Drugs, 2021 - Springer
Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-
galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The …
galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The …
Atherosclerosis in Fabry disease—a contemporary review
A Roy, H Umar, A Ochoa-Ferraro, A Warfield… - Journal of Clinical …, 2021 - mdpi.com
Fabry disease (FD) is a lysosomal storage disorder characterised by a deficiency in the
enzyme α-galactosidase A resulting in sphingolipid deposition which causes progressive …
enzyme α-galactosidase A resulting in sphingolipid deposition which causes progressive …
Fabry's disease: case series and review of literature
MM Wani, I Khan, RA Bhat, M Ahmad - Annals of Medical and Health …, 2016 - ajol.info
Fabry's disease is an X‑linked lysosomal storage disorder caused by a deficiency of alpha‑
galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in …
galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in …
Cutaneous complications of Anderson-Fabry disease
G Pistone, D Rizzo… - Current pharmaceutical …, 2013 - ingentaconnect.com
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the
α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α …
α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α …
Fabry disease: a review of current management strategies
A Mehta, M Beck, F Eyskens, C Feliciani… - … Journal of Medicine, 2010 - academic.oup.com
Fabry disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
[PDF][PDF] FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
DDEUMAD RARA - core.ac.uk
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the
deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide …
deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide …
Natural history of the cerebrovascular complications of Fabry disease
A Mehta, L Ginsberg - Acta paediatrica, 2005 - Wiley Online Library
Fabry disease is a rare, X‐linked lysosomal storage disease caused by an inborn deficiency
of α‐galactosidase A, which results in progressive accumulation of globotriaosylceramide in …
of α‐galactosidase A, which results in progressive accumulation of globotriaosylceramide in …
Fabry disease: raising awareness of the disease among physicians
F Carubbi, L Bonilauri - Internal and emergency medicine, 2012 - Springer
Fabry disease is an X-linked inherited lysosomal disorder due to dysfunctions of the
lysosomal enzyme alpha-galactosidase A, causing insufficient breakdown of glycolipids …
lysosomal enzyme alpha-galactosidase A, causing insufficient breakdown of glycolipids …
Neurological manifestations in Fabry disease
A Rolfs, A Dudesek, J Lukas, T Böttcher - Fabry Disease, 2010 - Springer
Neurological manifestations of Fabry disease occur in both the peripheral nervous system
(PNS) and central nervous system (CNS), with globotriaosylceramide (Gb3) accumulation in …
(PNS) and central nervous system (CNS), with globotriaosylceramide (Gb3) accumulation in …
Neurological complications of Anderson-Fabry disease
A Tuttolomondo, R Pecoraro, I Simonetta… - Current …, 2013 - ingentaconnect.com
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma,
corneal opacity, hypo/and anhidrosis, gastrointestinal symptoms, renal and cardiac …
corneal opacity, hypo/and anhidrosis, gastrointestinal symptoms, renal and cardiac …