Fabry disease
A Mehta, DA Hughes - Seattle (WA), 1993 - Wiley Online Library
Fabry disease is generally considered to be the second most prevalent lysosomal storage
disorder, after Gaucher disease, with an estimated incidence ranging between 1: 40,000 …
disorder, after Gaucher disease, with an estimated incidence ranging between 1: 40,000 …
[HTML][HTML] Fatigue as hallmark of Fabry disease: role of bioenergetic alterations
J Gambardella, E Riccio, A Bianco… - Frontiers in …, 2024 - frontiersin.org
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …
[HTML][HTML] Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
F Braun, A Abed, D Sellung, M Rogg… - The Journal of …, 2023 - Am Soc Clin Investig
Current therapies for Fabry disease are based on reversing intracellular accumulation of
globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated …
globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated …
[HTML][HTML] Plasma and platelet lipidome changes in Fabry disease
B Burla, J Oh, A Nowak, N Piraud, E Meyer, D Mei… - Clinica Chimica …, 2024 - Elsevier
Background Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by
the progressive accumulation of globotriaosylceramide (Gb3) leading to systemic …
the progressive accumulation of globotriaosylceramide (Gb3) leading to systemic …
[HTML][HTML] Fabry disease and central nervous system involvement: from big to small, from brain to synapse
E Cortés-Saladelafont, J Fernández-Martín… - International Journal of …, 2023 - mdpi.com
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations
in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A …
in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A …
[HTML][HTML] Glycosphingolipid metabolism and its role in ageing and Parkinson's disease
KL Wallom, ME Fernández-Suárez, DA Priestman… - Glycoconjugate …, 2022 - Springer
It is well established that lysosomal glucocerebrosidase gene (GBA) variants are a risk factor
for Parkinson's disease (PD), with increasing evidence suggesting a loss of function …
for Parkinson's disease (PD), with increasing evidence suggesting a loss of function …
X‐linked parkinsonism: phenotypic and genetic heterogeneity
X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a
recessive trait, therefore being more prevalent in males. Recent developments have …
recessive trait, therefore being more prevalent in males. Recent developments have …
Prevalence of Fabry disease among patients with Parkinson's disease
A Lackova, C Beetz, S Oppermann, P Bauer… - Parkinson's …, 2022 - Wiley Online Library
Background. An increased prevalence of Parkinson's disease (PD) disease has been
previously reported in subjects with Fabry disease (FD) carrying alpha‐galactosidase (GLA) …
previously reported in subjects with Fabry disease (FD) carrying alpha‐galactosidase (GLA) …
[HTML][HTML] Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?
M Zedde, R Pascarella, F Cavallieri, FR Pezzella… - Biomedicines, 2022 - mdpi.com
Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by
a composite and multisystemic clinical phenotype and frequent involvement of the central …
a composite and multisystemic clinical phenotype and frequent involvement of the central …
Fabry disease with concomitant Lewy body disease
K Del Tredici, AC Ludolph, S Feldengut… - … of Neuropathology & …, 2020 - academic.oup.com
Although Gaucher disease can be accompanied by Lewy pathology (LP) and
extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another …
extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another …