Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland
ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola +5 more
wiley +1 more source
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease [PDF]
Molecular Genetics and Metabolism, 2017 Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3).
Albina Nowak +3 more
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Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung +4 more
wiley +1 more source
The Utility of High‐Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease
JIMD Reports, Volume 66, Issue 5, September 2025.ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disease resulting in lysosomal accumulation of glycosphingolipids in multiple organs. In this study, we (1) compare high‐sensitivity cardiac troponins I and T (hs‐cTnI and hs‐cTnT) as markers of Fabry cardiomyopathy (FC), and (2) evaluate the role of hs‐cTn in monitoring early‐stage FC to ...
Subadra Wanninayake +6 more
wiley +1 more source
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study [PDF]
, 2023 BACKGROUND: Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised estimated ...
Alon, Sari +35 more
core
Molecular Genetics and MetabolismFabry disease (FD) is a rare, X-linked lysosomal storage disorder in which a lack of alpha-galactosidase (α-Gal A) enzyme activity leads to intracellular accumulation of deacylated globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), and their analogs.
Uma Ramaswami +8 more
openalex +3 more sources
Potential Usefulness of a Lifetime Lyso-Gb3 Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients with Fabry Disease [PDF]
, 2023 Junko Hotta +8 more
openalex +1 more source
Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley +1 more source
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study [PDF]
, 2023 Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the
Aguiar, P +15 more
core
Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Franklin Ducatez +17 more
wiley +1 more source