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Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by
deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide …
deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide …
[HTML][HTML] An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
DP Germain, G Altarescu, R Barriales-Villa… - Molecular genetics and …, 2022 - Elsevier
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
A Linhart, DP Germain, I Olivotto… - European journal of …, 2020 - Wiley Online Library
Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …
Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation
PR Scully, KP Patel, TA Treibel… - European heart …, 2020 - academic.oup.com
Aims Cardiac amyloidosis is common in elderly patients with aortic stenosis (AS) referred for
transcatheter aortic valve implantation (TAVI). We hypothesized that patients with dual aortic …
transcatheter aortic valve implantation (TAVI). We hypothesized that patients with dual aortic …
[HTML][HTML] SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance
Abstract The Society for Cardiovascular Magnetic Resonance (SCMR) last published its
comprehensive expert panel report of clinical indications for CMR in 2004. This new …
comprehensive expert panel report of clinical indications for CMR in 2004. This new …
Developments in the treatment of Fabry disease
SJ van der Veen, CEM Hollak… - Journal of inherited …, 2020 - Wiley Online Library
Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the
treatment of Fabry disease has been available for over 15 years. Long‐term treatment may …
treatment of Fabry disease has been available for over 15 years. Long‐term treatment may …
Fabry disease and the heart: a comprehensive review
O Azevedo, F Cordeiro, MF Gago… - International journal of …, 2021 - mdpi.com
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …
[HTML][HTML] An expert consensus on the recommendations for the use of biomarkers in Fabry disease
A Burlina, E Brand, D Hughes, I Kantola… - Molecular Genetics and …, 2023 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of
glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …
glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …
The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease
Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …
Anderson–Fabry disease management: role of the cardiologist
M Pieroni, M Namdar, I Olivotto… - European Heart …, 2024 - academic.oup.com
Anderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid
accumulation in cardiac cells, associated with a peculiar form of hypertrophic …
accumulation in cardiac cells, associated with a peculiar form of hypertrophic …