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PET brain imaging in neurological disorders
L **e, J Zhao, Y Li, J Bai - Physics of Life Reviews, 2024 - Elsevier
Neurological brain disorders are a series of conditions with damage or loss of neurons, such
as Parkinson's disease (PD), Alzheimer's disease (AD), or drug dependence. These …
as Parkinson's disease (PD), Alzheimer's disease (AD), or drug dependence. These …
[HTML][HTML] Fabry disease
A Mehta, DA Hughes - 2022 - europepmc.org
Fabry disease is the most common of the lysosomal storage disorders and results from
deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …
deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
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 …
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 …
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 …
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 …
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 …
[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 …