[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 …

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 …

Dual-signal triple-mode optical sensing platform for assisting in the diagnosis of kidney disorders

X Ye, D Gao, X Mu, Q Wu, P Ma, D Song - Analytical Chemistry, 2023 - ACS Publications
As known biomarkers of kidney diseases, N-acetyl-β-d-glucosaminidase (NAG) and β-
galactosidase (β-GAL) are of great importance for the diagnosis and treatment of diseases …

A novel AIE fluorescent probe for β-galactosidase detection and imaging in living cells

S Zhang, X Wang, X Wang, T Wang, W Liao… - Analytica Chimica …, 2022 - Elsevier
An AIE fluorescent probe (TPh-PyBz-β-gal) was designed and synthesized for β-gal
detection based on a novel AIE fluorophore and receptor unit D-galactose residue …

Cardiac involvement in Fabry disease and the role of multimodality imaging in diagnosis and disease monitoring

M Umer, M Motwani, JL Jefferies, SF Nagueh… - Current Problems in …, 2023 - Elsevier
Fabry disease (FD) is a rare, progressive, X-linked inherited disorder of glycosphingolipid
metabolism. It is a monogenic disease due to α-galactosidase A (α-GAL) enzyme deficiency …

Advanced CMR techniques in Anderson-Fabry disease: state of the art

A Ponsiglione, M De Giorgi, R Ascione, C Nappi… - Diagnostics, 2023 - mdpi.com
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder
caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD …

A near-infrared fluorescent probe for monitoring and imaging of β-galactosidase in living cells

C Wu, Z Ni, P Li, Y Li, X Pang, R Xie, Z Zhou, H Li… - Talanta, 2020 - Elsevier
Abstract β-Galactosidase (β-gal) which is overexpressed in primary ovarian cancer can be
employed as a valuable biomarker for ovarian cancer. Thus, monitoring and imaging …

Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson–Fabry disease …

M Imbriaco, C Nappi, A Ponsiglione… - European Heart …, 2019 - academic.oup.com
Abstract Aims Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder
associated with multi-organ dysfunction. While native myocardial T1 mapping by magnetic …

Cardiac involvement in Anderson–Fabry disease. The role of advanced echocardiography

L Spinelli, A Bianco, E Riccio, A Pisani… - Frontiers in …, 2024 - frontiersin.org
Anderson–Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in
alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene …

Does left ventricular function predict cardiac outcome in Anderson–Fabry disease?

L Spinelli, G Giugliano, A Pisani, M Imbriaco… - … International Journal of …, 2021 - Springer
Abstract In Anderson–Fabry disease (AFD) the impact of left ventricular (LV) function on
cardiac outcome is unknown. Noninvasive LV pressure–strain loop analysis is a new …