Results 41 to 50 of about 6,638 (157)
Molecular Genetics and Metabolism Reports, 2023 Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status
Amber Van Baelen +4 more
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Case Report: First Two Identified Cases of Fabry Disease in Central Asia
Frontiers in Genetics, 2021 Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly ...
Francesca Cainelli +8 more
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Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres
Molecular Genetics and Metabolism Reports, 2020 Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often with ...
Aizeddin A. Mhanni +8 more
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Orphanet Journal of Rare Diseases, 2022 Background There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from ...
K. Savostyanov +9 more
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European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes +12 more
wiley +1 more source
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic
ESC Heart Failure, 2022 Aims Fabry disease (FD) is a rare X‐linked genetic disorder caused by α‐galactosidase A (AGALA) deficiency. Whereas ‘classic’ variant has multisystemic manifestation, the more recently described ‘later‐onset’ variant is characterized by predominant ...
David Zemánek +16 more
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Analytical Science Advances, Volume 6, Issue 2, December 2025.ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu +3 more
wiley +1 more source
Lyso-Gb3 analogues and Gb3 Isoforms.
, 2015 (A) Chemical structure of Lyso-Gb3 and sphingosine modification of lyso-Gb3 analogues. (B) Chemical structure of Gb3(d18:1-C16:0) and ceramide modification of Gb3 isoforms having various fatty acids linked with various sphingosine moieties corresponding ...
Hideaki Sueoka (737783) +4 more
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Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain +6 more
wiley +1 more source
, 2015 (A) Lyso-Gb3, (B) Lyso-Gb3-IS, (C) Lyso-Gb3(-28), (D) Lyso-Gb3(-12), (E) Lyso-Gb3(-2), (F) Lyso-Gb3(+14), (G) Lyso-Gb3(+16), (H) Lyso-Gb3(+18), (I) Lyso-Gb3(+34), and (J) Lyso-Gb3(+50). Triangles (▼) indicate the target fragments used for quantification.
Hideaki Sueoka (737783) +4 more
core +1 more source