[HTML][HTML] Contribution of inflammatory pathways to Fabry disease pathogenesis
P Rozenfeld, S Feriozzi - Molecular genetics and metabolism, 2017 - Elsevier
Lysosomal storage diseases are usually considered to be pathologies in which the passive
deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal …
deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal …
[HTML][HTML] Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease
WL Hwu - Journal Of The Formosan Medical Association, 2024 - Elsevier
Molecular diagnosis has undergone rapid and significant advancements in recent years. But
because molecular diagnosis can be conducted independently of phenotype, it can …
because molecular diagnosis can be conducted independently of phenotype, it can …
[HTML][HTML] Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: a Fabry Registry …
RJ Hopkin, U Feldt-Rasmussen, DP Germain… - Molecular Genetics and …, 2020 - Elsevier
Background Fabry disease is an inherited disorder of glycolipid metabolism with progressive
involvement of multiple organs, including the gastrointestinal tract, in classically affected …
involvement of multiple organs, including the gastrointestinal tract, in classically affected …
A novel α-galactosidase A splicing mutation predisposes to Fabry disease
P Li, L Zhang, N Zhao, Q Xiong, YA Zhou, C Wu… - Frontiers in …, 2019 - frontiersin.org
Fabry disease (FD) is a rare X-linked α-galactosidase A (GLA) deficiency, resulting in
progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell …
progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell …
All reported non-canonical splice site variants in GLA cause aberrant splicing
E Okada, T Horinouchi, T Yamamura, Y Aoto… - Clinical and …, 2023 - Springer
Background Fabry disease is an X-linked lysosomal storage disorder caused by insufficient
α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to …
α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to …
Fabry disease cardiac variant IVS4+ 919 G> A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
JMJ Juang, CT Shun, YS Chen, WL Hwu, NC Lee… - Genetics in …, 2019 - nature.com
This study illustrates the uncertainties that we face during clinical practice in diagnosing
Fabry disease, especially now that genetic testing for Fabry disease and cardiomyopathy …
Fabry disease, especially now that genetic testing for Fabry disease and cardiomyopathy …
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry
P Li, L Zhang, N Zhao, Q Xiong, YA Zhou… - Genetics of Kidney …, 2020 - books.google.com
Fabry disease (FD) is a rare X-linked α-galactosidase A (GLA) deficiency, resulting in
progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell …
progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell …
Response to Juang et al.
H Chia-Lin, IL Dzhagalov, N Dau-Ming - Genetics in Medicine, 2019 - search.proquest.com
To the Editor We appreciate the interesting response by Juang et al. 1 to our article. 2 The
authors provide a completely different point of view and argue that IVS4+ 919 G> A is not a …
authors provide a completely different point of view and argue that IVS4+ 919 G> A is not a …
High incidence of co-existing GLA variants and stroke susceptibility.
YH Chien, WL Hwu - European Journal of Neurology, 2019 - europepmc.org
High incidence of co-existing GLA variants and stroke susceptibility. - Abstract - Europe PMC
Sign in | Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …
Sign in | Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …
Response to Juang et al.
CL Hsu, IL Dzhagalov, DM Niu - Genetics in Medicine, 2019 - nature.com
To the Editor We appreciate the interesting response by Juang et al. 1 to our article. 2 The
authors provide a completely different point of view and argue that IVS4+ 919 G> A is not a …
authors provide a completely different point of view and argue that IVS4+ 919 G> A is not a …